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
FAM192A	80011	broad.mit.edu	37	16	57188296	57188296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:57188296G>A	uc021tiy.1	-	6	930	c.671C>T	c.(670-672)tCc>tTc	p.S224F	FAM192A_uc021tix.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	224						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GCTGGACTCGGAGTCGCTGCT	0.597000														11			11		0	0	0.000978159	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30862917	30862917	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:30862917C>G	uc001rji.1	-	17	4054	c.3303G>C	c.(3301-3303)tgG>tgC	p.W1101C	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.W768C|CAPRIN2_uc001rjh.1_Missense_Mutation_p.W1051C|CAPRIN2_uc001rjk.4_3'UTR|CAPRIN2_uc001rjj.1_Missense_Mutation_p.W767C|CAPRIN2_uc001rjl.4_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	1101	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCAGACGTAACCATATCTGGT	0.428000														25			15		0	0	0.000219431	0	0
CEACAM1	634	broad.mit.edu	37	19	43031325	43031325	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:43031325G>A	uc002otv.3	-	1	427	c.292C>T	c.(292-294)Cga>Tga	p.R98*	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otw.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otx.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oty.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002otz.3_Nonsense_Mutation_p.R98*|CEACAM1_uc010eik.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oua.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002oub.3_Nonsense_Mutation_p.R98*|CEACAM1_uc002ouc.3_Nonsense_Mutation_p.R98*	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	98	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		p.G97C(1)|p.G97S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATTGTCTCTCGACCGCTGTTT	0.483000														77			47		0	0	0.000781405	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289424	160289425	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:160289424_160289425GG>AA	uc002uao.3	-	8	2148_2149	c.1743_1744CC>TT	c.(1741-1746)tcccat>tcTTat	p.H582Y	BAZ2B_uc002uap.3_Missense_Mutation_p.H580Y|BAZ2B_uc002uas.1_Missense_Mutation_p.H519Y|BAZ2B_uc002uaq.1_Missense_Mutation_p.H510Y|BAZ2B_uc002uar.1_Missense_Mutation_p.H155Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGCAGGATGGGAGTGATGCT	0.416000														56			24		0	0	6.4e-05	0	0
C4orf33	132321	broad.mit.edu	37	4	130032905	130032906	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:130032905_130032906CC>TT	uc003igu.4	+	5	923_924	c.559_560CC>TT	c.(559-561)ccg>TTg	p.P187L	C4orf33_uc010iod.3_Missense_Mutation_p.P187L	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	187										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGGAAACAACCGGAATCAGAC	0.342000														13			8		0	0	6.4e-05	0	0
LRIG1	26018	broad.mit.edu	37	3	66430815	66430815	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:66430815C>A	uc003dmx.3	-	18	3168	c.3154G>T	c.(3154-3156)Gcc>Tcc	p.A1052S	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.A672S|LRIG1_uc003dmw.3_Missense_Mutation_p.A718S|LRIG1_uc010hnz.3_Missense_Mutation_p.A768S|LRIG1_uc010hoa.3_Missense_Mutation_p.A1029S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	1052						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGTACTGGGCTTCCGCGCGC	0.567000														49			43		2.24893e-16	1.61382e-15	0.000437636	1	0
COL19A1	1310	broad.mit.edu	37	6	70859924	70859924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:70859924C>T	uc003pfc.1	+	29	2141	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	COL19A1_uc010kam.2_Missense_Mutation_p.P571L	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	675	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCCAGGCCCCCCAGGTGAC	0.488000														17			15		0	0	0.000422831	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791980	37791980	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:37791980G>A	uc002hrz.3	+	6	1034	c.565_splice	c.e6+1	p.E189_splice	PPP1R1B_uc010cvx.3_Splice_Site_p.E156_splice|PPP1R1B_uc002hsb.3_Splice_Site_p.E153_splice|PPP1R1B_uc002hsc.3_Splice_Site_p.E153_splice|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	189					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCACTAAGTGGTAAGGCTTGG	0.637000														22			22		0	0	0.000586117	0	0
BEND6	221336	broad.mit.edu	37	6	56846633	56846633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:56846633G>A	uc010kab.3	+	1	611	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	BEND6_uc003pdg.2_Non-coding_Transcript	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	9										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAGACAGATGAAATTACCAA	0.378000														60			41		0	0	0.000437636	0	0
NLRP3	114548	broad.mit.edu	37	1	247588892	247588892	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:247588892G>C	uc001icr.3	+	4	2285	c.2147G>C	c.(2146-2148)tGt>tCt	p.C716S	NLRP3_uc001ics.3_Missense_Mutation_p.C716S|NLRP3_uc001icu.3_Missense_Mutation_p.C716S|NLRP3_uc001icw.3_Missense_Mutation_p.C716S|NLRP3_uc001icv.3_Missense_Mutation_p.C716S|NLRP3_uc010pyw.2_Missense_Mutation_p.C714S|NLRP3_uc001ict.1_Missense_Mutation_p.C714S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	716					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGCTGCCTGTTCTCATGGG	0.522000														41			10		0	0	0.000978159	0	0
OR10A6	390093	broad.mit.edu	37	11	7949881	7949881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:7949881G>A	uc010rbh.2	-	0	329	c.329C>T	c.(328-330)gCt>gTt	p.A110V		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAACATTCAGCCCCACCAAA	0.388000														8			4		0	0	0.00024832	0	0
SYT10	341359	broad.mit.edu	37	12	33538203	33538203	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:33538203G>A	uc001rll.1	-	3	1398	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SYT10_uc009zju.1_Silent_p.I177I	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	367	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGGAAAACATGATTTCACCCA	0.398000														7			5		0	0	8.12818e-05	0	0
SNCB	6620	broad.mit.edu	37	5	176053500	176053500	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176053500C>T	uc010jke.1	-	1	778	c.384G>A	c.(382-384)agG>agA	p.R128R	SNCB_uc021yij.1_Missense_Mutation_p.E61K|SNCB_uc003mep.3_Missense_Mutation_p.E61K|SNCB_uc003meq.3_Missense_Mutation_p.E61K|SNCB_uc021yig.1_Missense_Mutation_p.E47K|SNCB_uc021yih.1_Missense_Mutation_p.E61K|SNCB_uc021yii.1_Missense_Mutation_p.E47K			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCCTGTTCCTTGGTTTTT	0.582000														7			12		0	0	0.00136819	0	0
SNX14	57231	broad.mit.edu	37	6	86281875	86281876	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:86281875_86281876CC>TT	uc003pkr.3	-	3	589_590	c.396_397GG>AA	c.(394-399)aaggtt>aaAAtt	p.V133I	SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.V81I|SNX14_uc003pks.3_Missense_Mutation_p.V133I|SNX14_uc003pkt.3_Missense_Mutation_p.V133I	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	133	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATGCATCAACCTTGGAAGAAA	0.302000														65			37		0	0	6.4e-05	0	0
HSPA8	3312	broad.mit.edu	37	11	122930895	122930895	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:122930895C>A	uc001pyo.3	-	3	628	c.493G>T	c.(493-495)Gct>Tct	p.A165S	HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Missense_Mutation_p.A165S|HSPA8_uc010rzu.2_Missense_Mutation_p.A88S|HSPA8_uc009zbd.2_Missense_Mutation_p.A165S|HSPA8_uc010rzv.1_Missense_Mutation_p.A165S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	165					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGAGACCAGCAATAGTTCCA	0.423000														60			6		0.00116845	0.00809969	0.00116845	1	0
ANKRD17	26057	broad.mit.edu	37	4	73968111	73968111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:73968111C>T	uc003hgp.3	-	24	4672	c.4555G>A	c.(4555-4557)Gaa>Aaa	p.E1519K	ANKRD17_uc003hgo.3_Missense_Mutation_p.E1406K|ANKRD17_uc003hgq.3_Missense_Mutation_p.E1268K|ANKRD17_uc003hgr.3_Missense_Mutation_p.E1518K	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1519					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAAGCTTTTCTTTTTCTTGA	0.299000														32			21		0	0	0.00047179	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654012	43654013	+	Missense_Mutation	DNP	GC	AT	AT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:43654012_43654013GC>AT	uc001zrk.1	-	4	1964_1965	c.1817_1818GC>AT	c.(1816-1818)ggc>gAT	p.G606D	ZSCAN29_uc001zrj.1_Missense_Mutation_p.G486D|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G216D|ZSCAN29_uc010bdf.1_Missense_Mutation_p.A535I|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	606					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACTCTCATTGCCTTTACCCTG	0.436000														60			34		0	0	6.4e-05	0	0
CDK11B	984	broad.mit.edu	37	1	1572329	1572330	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:1572329_1572330GG>AA	uc001agv.1	-	16	1806_1807	c.1723_1724CC>TT	c.(1723-1725)cct>TTt	p.P575F	CDK11B_uc009vkj.2_Missense_Mutation_p.P234F|CDK11B_uc001ags.1_Missense_Mutation_p.P435F|CDK11B_uc001agt.1_Missense_Mutation_p.P360F|CDK11B_uc001aha.1_Missense_Mutation_p.P541F|CDK11B_uc001agw.1_Missense_Mutation_p.P525F|CDK11B_uc001agy.1_Missense_Mutation_p.P568F|CDK11B_uc001agx.1_Missense_Mutation_p.P559F|CDK11B_uc001agz.1_Missense_Mutation_p.P321F	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	590	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GGCCTTCAGAGGGGATCCGTAC	0.683000														15			8		0	0	6.4e-05	0	0
PTCH1	5727	broad.mit.edu	37	9	98231241	98231241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:98231241G>A	uc004avk.4	-	13	2230	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	PTCH1_uc010mro.3_Missense_Mutation_p.P530L|PTCH1_uc010mrp.3_Missense_Mutation_p.P530L|PTCH1_uc010mrq.3_Missense_Mutation_p.P530L|PTCH1_uc004avl.4_Missense_Mutation_p.P530L|PTCH1_uc004avm.4_Missense_Mutation_p.P680L|PTCH1_uc010mrr.3_Missense_Mutation_p.P615L|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Missense_Mutation_p.P349L	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	681					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P681L(5)|p.P680L(2)|p.E680*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCGGAGCGCGGCTCAGCGGT	0.622000														6			37		0	0	0.00111076	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:92364064C>T	uc003yez.3	+	9	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_uc003yex.3_Silent_p.F389F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F389F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	389						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGCATTTTCGTCCTTATAG	0.353000														24			36		0	0	0.000680045	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58220709	58220709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:58220709G>A	uc002enc.3	-	2	410	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	90	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTTCCACCACGAAGGTTCTCC	0.413000														38			27		0	0	0.00178596	0	0
GRM6	2916	broad.mit.edu	37	5	178413290	178413290	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178413290G>A	uc003mjr.3	-	7	2144	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.L238L|GRM6_uc003mjs.1_Silent_p.L275L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	655					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCCCAGGAAGAGCCTGCGGG	0.637000														6			11		0	0	0.000978159	0	0
RNF214	257160	broad.mit.edu	37	11	117150915	117150915	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:117150915T>G	uc001pqt.3	+	7	1130	c.1085T>G	c.(1084-1086)tTa>tGa	p.L362*	RNF214_uc001pqu.3_Nonsense_Mutation_p.L362*|RNF214_uc010rxf.2_Nonsense_Mutation_p.L207*	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	362							zinc ion binding	p.E361*(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CGGAAAGAGTTACTGGTACTG	0.368000														49			21		0	0	0.000586117	0	0
RNF213	57674	broad.mit.edu	37	17	78319648	78319648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:78319648C>T	uc002jyh.2	+	29	7803	c.7660C>T	c.(7660-7662)Cat>Tat	p.H2554Y	RNF213_uc021uen.1_Missense_Mutation_p.H2505Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGTGTGATCATATGGTGGA	0.478000														46			43		0	0	0.000589545	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455461	187455461	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:187455461G>A	uc003izd.1	-	1	453	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	145					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCACGTAGCAGAGGGAGTTCT	0.572000														22			9		0	0	0.000274275	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553523	140553523	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140553523G>A	uc003lit.3	+	0	1281	c.1107G>A	c.(1105-1107)agG>agA	p.R369R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	369	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTTTAGGATTAGAGACA	0.463000														23			13		0	0	0.000219431	0	0
WDR69	164781	broad.mit.edu	37	2	228783561	228783561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:228783561G>A	uc002vpn.1	+	10	1118	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	WDR69_uc010zlw.1_Missense_Mutation_p.E332K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	347										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGAAGGTGAAATTTCAAA	0.408000														28			27		0	0	0.000409698	0	0
FNIP2	57600	broad.mit.edu	37	4	159790132	159790132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:159790132C>T	uc003iqe.4	+	12	2527	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	782	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCAGAATCGGCTTTCAGA	0.547000														30			22		0	0	0.000295444	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:166963267G>A	uc001gdy.1	+	4	555	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_uc021peh.1_Missense_Mutation_p.E106K|MAEL_uc001gdz.1_Missense_Mutation_p.E131K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	162					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTATAGGTGAAATTCCACG	0.348000														17			23		0	0	0.00047179	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935677	47935677	+	Silent	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:47935677C>A	uc010ele.3	-	7	2152	c.2136G>T	c.(2134-2136)ggG>ggT	p.G712G	SLC8A2_uc002pgx.3_Silent_p.G712G|SLC8A2_uc010xyq.2_Silent_p.G468G|SLC8A2_uc010xyr.2_Silent_p.G175G			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	712					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCCGGGACCCGTCCTCCT	0.612000														34			20		2.52088e-20	1.81907e-19	0.000375601	1	0
GIF	2694	broad.mit.edu	37	11	59610057	59610057	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:59610057C>T	uc001noi.3	-	4	419	c.371_splice	c.e4-1	p.S124_splice	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	124					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCGTTGGGGCCTCCGAAGGGG	0.517000														11			9		0	0	0.000274275	0	0
CACNA1B	774	broad.mit.edu	37	9	140991032	140991032	+	Silent	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:140991032C>A	uc004cog.3	+	35	5330	c.5185C>A	c.(5185-5187)Cgg>Agg	p.R1729R	CACNA1B_uc022bqn.1_Silent_p.R1729R|CACNA1B_uc004coi.3_Silent_p.R943R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1731	EF-hand.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGTTCATCCGGGTCTGGGC	0.562000														34			4		0.000602214	0.00421224	0.000602214	1	0
AGPHD1	123688	broad.mit.edu	37	15	78819883	78819883	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:78819883C>T	uc010unc.2	+	3	752	c.639C>T	c.(637-639)acC>acT	p.T213T	AGPHD1_uc002bdt.3_Silent_p.T213T|AGPHD1_uc010ble.3_Silent_p.T213T	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	213						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						AAGTAATGACCAAATTAAGTC	0.368000														95			18		0	0	0.00152264	0	0
DBN1	1627	broad.mit.edu	37	5	176895126	176895126	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176895126A>G	uc003mgx.2	-	3	526	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	DBN1_uc003mgy.2_Missense_Mutation_p.Y80H|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_Missense_Mutation_p.Y17H	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	80	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGAGCACGTATTTTGGCAGA	0.612000														105			76		0	0	0.000781405	0	0
DSG3	1830	broad.mit.edu	37	18	29039894	29039894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:29039894G>A	uc002kws.3	+	5	713	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	202	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTCTCTCAGGAACCAGCAGG	0.458000														15			11		0	0	0.00136819	0	0
HSPG2	3339	broad.mit.edu	37	1	22183635	22183635	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:22183635G>A	uc009vqd.3	-	43	5491	c.5451C>T	c.(5449-5451)acC>acT	p.T1817T	HSPG2_uc001bfj.3_Silent_p.T1816T	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1816	Ig-like C2-type 3.				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)	CCATGGCTCGGGTGGGCAGTT	0.612000														48			34		0	0	0.000374591	0	0
SETBP1	26040	broad.mit.edu	37	18	42531392	42531392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:42531392C>T	uc010dni.3	+	3	2383	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	696						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGCTCCCCCAGAGACCAGC	0.488000									Schinzel-Giedion syndrome					13			5		0	0	0.00116845	0	0
ANK2	287	broad.mit.edu	37	4	114279687	114279687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:114279687C>T	uc003ibe.4	+	37	10013	c.9913C>T	c.(9913-9915)Cct>Tct	p.P3305S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3320S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAAAATTCCTGTAAGGAC	0.428000														16			17		0	0	0.000422831	0	0
UNC5A	90249	broad.mit.edu	37	5	176301449	176301449	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176301449G>T	uc003mey.3	+	7	1452	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	UNC5A_uc010jkg.1_Missense_Mutation_p.E380D	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	420					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGCCGAGGAGTTCGTCT	0.667000														38			32		9.8876e-21	7.14822e-20	0.000953801	1	0
FSTL5	56884	broad.mit.edu	37	4	162421234	162421234	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:162421234C>T	uc003iqh.3	-	11	1828	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	FSTL5_uc003iqi.3_Silent_p.V463V|FSTL5_uc010iqv.3_Silent_p.V454V	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	464						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGGTTGTATCACTTTGATTC	0.318000														18			6		0	0	0.00116845	0	0
TEX15	56154	broad.mit.edu	37	8	30703654	30703654	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:30703654G>A	uc003xil.3	-	0	2880	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	960										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCGTCCTTGGGATAATGAAG	0.343000														36			49		0	0	0.000781405	0	0
C10orf71	118461	broad.mit.edu	37	10	50531295	50531295	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:50531295C>T	uc021pqb.1	+	0	705	c.705C>T	c.(703-705)ttC>ttT	p.F235F	C10orf71_uc021pqa.1_Silent_p.F234F|C10orf71_uc021pqc.1_Silent_p.F235F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	235										endometrium(1)	1						CCAGCAGCTTCCTCCCAGCAG	0.567000														0			10		0	0	0.000673444	0	0
CANT1	124583	broad.mit.edu	37	17	76989811	76989811	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:76989811C>G	uc002jwj.3	-	3	1522	c.1027G>C	c.(1027-1029)Ggc>Cgc	p.G343R	CANT1_uc002jwn.3_Missense_Mutation_p.G343R|CANT1_uc002jwk.3_Missense_Mutation_p.G343R|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	343					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GACGAGAAGCCGTGAGTGGGG	0.632000			T	ETV4	prostate									21			16		0	0	0.000566183	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028891	44028891	+	RNA	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:44028891G>A	uc001zss.3	-	3		c.890C>T								Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA.																		AATGATTGATGTTTAGTTTTA	0.338000														5			4		0	0	0.00024832	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	GG	GG	rs1054158	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:22663086_22663087TA>GG	uc021wml.1	+	30		c.2444_2445TA>GG			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCTT	0.302000														34			5		0	0	6.4e-05	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745580	167745580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:167745580G>A	uc011bpe.1	-	11	1906	c.1562C>T	c.(1561-1563)cCa>cTa	p.P521L	GOLIM4_uc003ffe.2_Missense_Mutation_p.P520L|GOLIM4_uc011bpf.1_Missense_Mutation_p.P493L|GOLIM4_uc011bpg.1_Missense_Mutation_p.P492L	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	520	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus		p.G521V(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTATTACCTGGATCTCCTTC	0.458000														115			37		0	0	0.000781405	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310792	75310792	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:75310792G>A	uc002azn.2	+	5	640	c.453G>A	c.(451-453)acG>acA	p.T151T	SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	143					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTTCGGAACGAACATTGGCT	0.592000														63			153		0	0	0.000781405	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911218	230911218	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:230911218G>A	uc002vqd.2	-	3	1083	c.624C>T	c.(622-624)ctC>ctT	p.L208L	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.L208L|SLC16A14_uc002vqf.3_Silent_p.L208L	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	208						integral to membrane|plasma membrane	symporter activity	p.A207A(2)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGGCCTCATGAGCGCCCCAC	0.552000														40			15		0	0	0.000308642	0	0
GRM6	2916	broad.mit.edu	37	5	178418561	178418561	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178418561C>T	uc003mjr.3	-	3	901	c.722_splice	c.e3-1	p.G241_splice	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	241					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGACCCCCCCTGGGCGTTGG	0.617000														33			26		0	0	0.000878237	0	0
ZNF195	7748	broad.mit.edu	37	11	3381483	3381483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:3381483G>A	uc001lxt.3	-	5	937	c.755C>T	c.(754-756)tCc>tTc	p.S252F	ZNF195_uc010qxr.2_Missense_Mutation_p.S233F|ZNF195_uc009ydz.3_Missense_Mutation_p.S207F|ZNF195_uc001lxu.3_Missense_Mutation_p.S184F|ZNF195_uc001lxv.3_Missense_Mutation_p.S229F|ZNF195_uc021qck.1_Missense_Mutation_p.S184F|ZNF195_uc001lxs.3_Missense_Mutation_p.S180F	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATTTGAAAGGATTTGCCACA	0.308000														22			15		0	0	0.00074312	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:51872921C>T	uc002xwo.3	+	1	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_uc021wex.1_Missense_Mutation_p.S972L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	975					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCGGGTATCGTCGGCTCAG	0.493000														35			13		0	0	0.000151284	0	0
CCDC126	90693	broad.mit.edu	37	7	23682705	23682705	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:23682705A>T	uc003swn.3	+	3	739	c.394A>T	c.(394-396)Aga>Tga	p.R132*	CCDC126_uc003swl.3_Nonsense_Mutation_p.R132*|CCDC126_uc003swm.3_Nonsense_Mutation_p.R132*	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	Homo sapiens coiled-coil domain containing 126 (CCDC126), mRNA.	132						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CACAAATAAAAGAACGAATGT	0.423000														28			5		0	0	0.000602214	0	0
VWC2L	402117	broad.mit.edu	37	2	215279272	215279272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:215279272C>T	uc002vet.2	+	1	485	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	VWC2L_uc010zjl.1_Missense_Mutation_p.H119Y	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	119	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTGTGAATATCACGGGAAAAA	0.373000														8			14		0	0	0.000151284	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														7			5		0	0	0.000157383	0	0
GSTT1	2952	broad.mit.edu	37	22	24376964	24376964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:24376964G>A	uc002zze.4	-	3	439	c.386C>T	c.(385-387)tCt>tTt	p.S129F	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Missense_Mutation_p.S11F|GSTT1_uc010guh.3_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	129	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGTCTGGGGAGATACTGGCTC	0.542000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					61			22		0	0	0.00047179	0	0
DSCAM	1826	broad.mit.edu	37	21	41710220	41710220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:41710220G>A	uc002yyq.1	-	7	2043	c.1591C>T	c.(1591-1593)Ccg>Tcg	p.P531S	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.	531	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGTAATACGGATAGCCAATC	0.438000														37			15		0	0	0.000308642	0	0
FARS2	10667	broad.mit.edu	37	6	5431349	5431349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:5431349G>A	uc010jnv.1	+	3	1184	c.848G>A	c.(847-849)gGa>gAa	p.G283E	FARS2_uc003mwr.2_Missense_Mutation_p.G283E	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	283					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.G283E(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTCATGGAGAATGGCTG	0.418000														50			50		0	0	0.000781405	0	0
DOCK3	1795	broad.mit.edu	37	3	51370636	51370636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:51370636C>T	uc011bds.2	+	34	3586	c.3563C>T	c.(3562-3564)tCc>tTc	p.S1188F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1188	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGCATTTCCTTTGTGACC	0.532000														39			52		0	0	0.000781405	0	0
AFF1	4299	broad.mit.edu	37	4	88035744	88035744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:88035744C>T	uc011ccz.2	+	11	2034	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	AFF1_uc003hqj.4_Missense_Mutation_p.P580S|AFF1_uc003hqk.4_Missense_Mutation_p.P580S|AFF1_uc011cda.2_Missense_Mutation_p.P218S	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	580						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCCCCCACCCCGGAAAGAG	0.597000														5			12		0	0	0.000151284	0	0
PSG5	5673	broad.mit.edu	37	19	43679476	43679476	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:43679476C>T	uc002ovu.3	-	3	986	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.K285K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	285	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATAGAGAGCTTTTGTCCTG	0.453000														50			35		0	0	0.000692331	0	0
ZMAT3	64393	broad.mit.edu	37	3	178742978	178742978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:178742978G>A	uc003fjg.3	-	5	1028	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZMAT3_uc003fji.3_Missense_Mutation_p.P232S	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AGATCACGTGGAATTCTCTGC	0.423000														9			29		0	0	0.00106085	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45122507	45122507	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:45122507C>T	uc003bfd.3	+	3	592	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PRR5-ARHGAP8_uc003bew.2_Silent_p.F96F|PRR5-ARHGAP8_uc003bex.2_Silent_p.F10F|PRR5-ARHGAP8_uc010gzt.1_Silent_p.F128F|PRR5-ARHGAP8_uc003bey.1_Silent_p.F96F|PRR5-ARHGAP8_uc003bez.1_Silent_p.F10F|PRR5-ARHGAP8_uc011aqi.2_Silent_p.F96F|PRR5-ARHGAP8_uc011aqj.2_Silent_p.F10F|PRR5-ARHGAP8_uc003bfb.2_Silent_p.F105F|PRR5-ARHGAP8_uc003bfg.1_Silent_p.F10F	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGATTCGCTTCTATGAGGGTG	0.637000														11			13		0	0	0.000308642	0	0
OR4C12	283093	broad.mit.edu	37	11	50003317	50003317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:50003317G>A	uc010ria.2	-	0	755	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTATGATGTGAGAAATACAG	0.403000														9			8		0	0	0.000157383	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739548	121739548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:121739548G>A	uc003ksw.1	+	2	324	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E40K|SNCAIP_uc003ksy.1_Silent_p.T24T|SNCAIP_uc003ksx.1_Missense_Mutation_p.E87K|SNCAIP_uc003ksz.1_Silent_p.T24T|SNCAIP_uc010jcu.2_Silent_p.T24T|SNCAIP_uc011cwm.1_Silent_p.T24T|SNCAIP_uc003kta.1_Silent_p.T22T|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.T24T|SNCAIP_uc010jcx.1_Missense_Mutation_p.E40K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	40					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)		TACGCAAAACGAAGACAGATC	0.478000														21			18		0	0	0.00152264	0	0
RAF1	5894	broad.mit.edu	37	3	12632392	12632392	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:12632392C>T	uc003bxf.4	-	11	1690	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	RAF1_uc011aut.2_Silent_p.E210E|RAF1_uc011auu.2_Silent_p.E343E	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	425	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.C424C(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCTGCTGCCCTCGCACCACT	0.537000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					65			17		0	0	0.00121646	0	0
MLL2	8085	broad.mit.edu	37	12	49443655	49443655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:49443655G>A	uc001rta.4	-	10	3716	c.3716C>T	c.(3715-3717)tCc>tTc	p.S1239F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1239					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAACTCCATGGACAGGGAGCC	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				23			22		0	0	0.000375601	0	0
LRP1B	53353	broad.mit.edu	37	2	141777653	141777653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:141777653C>T	uc002tvj.1	-	11	2780	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	603					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G603C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGCAATGCCCTCTACATT	0.363000										TSP Lung(27;0.18)				9			18		0	0	0.000229342	0	0
ZNF709	163051	broad.mit.edu	37	19	12577622	12577622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:12577622C>T	uc002mtv.4	-	1	207	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF709_uc002mtw.4_5'UTR|ZNF709_uc002mtx.4_Missense_Mutation_p.E16K	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCCCACTCCTCCTGGGTGAAG	0.468000														38			26		0	0	0.000878237	0	0
C3	718	broad.mit.edu	37	19	6694622	6694622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:6694622C>T	uc002mfm.3	-	23	3036	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	992					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.E992D(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACGGCATCCTCTGTCATCTGG	0.632000														17			8		0	0	0.000157383	0	0
AJAP1	55966	broad.mit.edu	37	1	4772234	4772234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:4772234C>T	uc001alm.1	+	1	685	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	AJAP1_uc001aln.3_Missense_Mutation_p.H102Y	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	102					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGACGGGCCCACAGGCCCCG	0.736000														6			6		0	0	0.00116845	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:55846191C>T	uc001sgz.1	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000														16			10		0	0	0.000442599	0	0
LAD1	3898	broad.mit.edu	37	1	201356012	201356012	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:201356012C>T	uc001gwm.3	-	2	712	c.477G>A	c.(475-477)gaG>gaA	p.E159E	LAD1_uc009wzu.1_Silent_p.E181E	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	159						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCACCAAGCTCTCCTCCTCCA	0.587000														35			51		0	0	0.000781405	0	0
KIF18A	81930	broad.mit.edu	37	11	28080511	28080511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:28080511G>A	uc001msc.2	-	12	2092	c.1910C>T	c.(1909-1911)aCc>aTc	p.T637I	JA429044_uc021qfh.1_5'Flank	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	637					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTGTGGAAAGGTCATAAGAAC	0.368000														35			28		0	0	0.000491102	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682355	69682355	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:69682355C>T	uc003hee.3	+	0	643	c.618C>T	c.(616-618)ttC>ttT	p.F206F	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	206					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAATGACTTTCATGGAGAGGG	0.353000														19			6		0	0	0.000157383	0	0
MUC5B	727897	broad.mit.edu	37	11	1263828	1263828	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1263828C>G	uc001lta.3	+	30	5777	c.5718C>G	c.(5716-5718)atC>atG	p.I1906M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1906	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGACCTGGATCCTCACAAAGC	0.637000														36			15		0	0	0.000958276	0	0
PSMC6	5706	broad.mit.edu	37	14	53173913	53173913	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:53173913C>T	uc010tqx.2	+	0	18	c.18C>T	c.(16-18)atC>atT	p.I6I	PSMC6_uc010tqv.2_Silent_p.I6I|PSMC6_uc010tqw.2_5'UTR	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTCCCGGCATCCCCTATGAGA	0.647000														12			9		0	0	0.000442599	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		GACTCGTTTTCCCTAGATAAA	0.423000														33			6		0	0	8.12818e-05	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:3905638G>A	uc010xhz.2	+	4	844	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ATCAY_uc002lyy.4_Missense_Mutation_p.E115K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	115					transport		protein binding	p.D120D(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAATGGCAACGAACTGGAGTG	0.577000														16			17		0	0	0.000958276	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822634	40822635	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:40822634_40822635CC>TT	uc002iau.2	-	9	1977_1978	c.1510_1511GG>AA	c.(1510-1512)ggg>AAg	p.G504K	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G501K	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	504	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGGGACAGCCCCTCAGGGTGC	0.629000														20			16		0	0	6.4e-05	0	0
TUBB7P	56604	broad.mit.edu	37	4	190903785	190903785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:190903785C>T	uc011clg.2	-	3	1200	c.982G>A	c.(982-984)Gag>Aag	p.E328K				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	400					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TCCATGCCCTCGCCCGTGTAC	0.557000														45			34		0	0	0.000491102	0	0
MLPH	79083	broad.mit.edu	37	2	238449075	238449075	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:238449075A>G	uc002vwt.3	+	9	1416	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	MLPH_uc002vws.3_Missense_Mutation_p.S254G|MLPH_uc010fyt.1_Missense_Mutation_p.S369G|MLPH_uc002vwu.3_Missense_Mutation_p.S369G|MLPH_uc002vwv.3_Missense_Mutation_p.S329G|MLPH_uc002vww.3_Missense_Mutation_p.S345G|MLPH_uc002vwx.3_Missense_Mutation_p.S253G	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	397							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CAGCAACGTCAGTGACCAGGA	0.627000														16			24		0	0	0.000586117	0	0
TTPAL	79183	broad.mit.edu	37	20	43108823	43108823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43108823C>T	uc002xmc.1	+	2	308	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TTPAL_uc002xmd.1_Missense_Mutation_p.R62C|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	62						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GCAGGCCCTTCGTGACATGGT	0.592000														9			15		0	0	0.000422831	0	0
JARID2	3720	broad.mit.edu	37	6	15501623	15501623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:15501623C>T	uc003nbj.3	+	7	2675	c.2431C>T	c.(2431-2433)Cac>Tac	p.H811Y	JARID2_uc011div.2_Missense_Mutation_p.H639Y|JARID2_uc011diw.1_Missense_Mutation_p.H773Y	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	811					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAATGACTTCCACAAGTGCAT	0.587000														25			17		0	0	0.00121646	0	0
OR51G1	79324	broad.mit.edu	37	11	4944919	4944919	+	Silent	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:4944919A>G	uc010qyr.2	-	0	651	c.651T>C	c.(649-651)ttT>ttC	p.F217F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTATGAGAGAAAGATGAGCA	0.547000														10			8		0	0	0.000274275	0	0
CD163	9332	broad.mit.edu	37	12	7637779	7637779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:7637779C>T	uc001qsz.3	-	10	2820	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R	CD163_uc001qta.3_Missense_Mutation_p.G898R|CD163_uc009zfw.2_Missense_Mutation_p.G931R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	898	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCAGGTCCTTTTGGACAC	0.542000														16			11		0	0	0.000978159	0	0
DNM2	1785	broad.mit.edu	37	19	10934479	10934479	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10934479C>T	uc002mpt.2	+	16	1987	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.D599D|DNM2_uc010dxl.2_Silent_p.D599D|DNM2_uc002mpu.2_Silent_p.D595D|DNM2_uc002mpv.2_Silent_p.D595D|DNM2_uc002mpw.3_Silent_p.D328D|DNM2_uc002mpx.1_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	599	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTACAAGGACCTGCGGCAGA	0.637000			"""F, N, Splice, Mis, O"""		ETP ALL									34			6		0	0	0.00116845	0	0
MST1R	4486	broad.mit.edu	37	3	49924951	49924951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:49924951C>T	uc003cxy.4	-	19	4256	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	MST1R_uc011bdc.2_Missense_Mutation_p.R1282Q	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1331	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAAGGTGGGTCGCACTGCTGG	0.557000														48			18		0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179458812	179458812	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:179458812C>T	uc021vsy.1	-	245	50829	c.50604G>A	c.(50602-50604)aaG>aaA	p.K16868K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K10563K|TTN_uc021vta.1_Silent_p.K10496K|TTN_uc021vtb.1_Silent_p.K10371K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17795	Fibronectin type-III 22.						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)			CTGGTGTAGTCTTTATATGAG	0.463000														27			31		0	0	0.000409698	0	0
NEU4	129807	broad.mit.edu	37	2	242755715	242755715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:242755715C>T	uc002wcp.2	+	1	567	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	NEU4_uc010fzr.3_Missense_Mutation_p.L12F|NEU4_uc002wcm.3_Missense_Mutation_p.L12F|NEU4_uc002wco.2_Missense_Mutation_p.L12F|NEU4_uc002wcn.2_Missense_Mutation_p.L24F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACGGACAGTGCTCTTCGAGCG	0.697000														17			22		0	0	0.000878237	0	0
BTBD11	121551	broad.mit.edu	37	12	108013802	108013802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:108013802G>A	uc001tmk.1	+	10	3013	c.2492G>A	c.(2491-2493)cGg>cAg	p.R831Q	BTBD11_uc009zut.1_Missense_Mutation_p.R712Q|BTBD11_uc001tmj.3_Missense_Mutation_p.R831Q|BTBD11_uc001tml.1_Missense_Mutation_p.R368Q	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	831						integral to membrane	DNA binding	p.R831Q(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGTCTTTGCGGATCGCCTTC	0.602000														9			7		0	0	0.000274275	0	0
CTPS1	1503	broad.mit.edu	37	1	41454276	41454277	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:41454276_41454277CC>TT	uc001cgk.4	+	4	957_958	c.449_450CC>TT	c.(448-450)acc>aTT	p.T150I	CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Missense_Mutation_p.T157I|CTPS1_uc001cgl.4_Missense_Mutation_p.T150I|CTPS1_uc010ojq.2_5'UTR	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	150					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTTGGTGGAACCGTGGGGGACA	0.436000														53			40		0	0	6.4e-05	0	0
GBP4	115361	broad.mit.edu	37	1	89654350	89654350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:89654350G>A	uc001dnb.3	-	7	1441	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	442						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCAGGAACAGAGAAAATTCC	0.448000														83			76		0	0	0.000781405	0	0
FAHD2B	151313	broad.mit.edu	37	2	97749751	97749751	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:97749751C>T	uc002sxm.3	-	6	967	c.816G>A	c.(814-816)ggG>ggA	p.G272G		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	272							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGATGACATCCCCTGGGTAAA	0.557000														7			16		0	0	0.00074312	0	0
SOCS5	9655	broad.mit.edu	37	2	46986148	46986148	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:46986148C>G	uc021vgx.1	+	0	479	c.479C>G	c.(478-480)tCt>tGt	p.S160C	SOCS5_uc002rvf.3_Missense_Mutation_p.S160C|SOCS5_uc002rvg.3_Missense_Mutation_p.S160C	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	160					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGCGTAAGTTCTGTACACGAC	0.468000														21			34		0	0	0.00058488	0	0
NBEA	26960	broad.mit.edu	37	13	35738574	35738574	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:35738574C>T	uc021rid.1	+	23	4695	c.4161C>T	c.(4159-4161)tcC>tcT	p.S1387S	NBEA_uc021ric.1_Silent_p.S1387S|NBEA_uc010abi.3_Silent_p.S78S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1387						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTCATTTCCCAAATGGTAG	0.353000														6			6		0	0	8.12818e-05	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544186	71544186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:71544186C>T	uc001dft.3	-	2	466	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	BC054887_uc001dfu.1_5'Flank|ZRANB2_uc001dfs.3_Missense_Mutation_p.E58K	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	58					RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGGCTCTTTTCTGCAAGTGTC	0.383000														47			23		0	0	0.00127121	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179592	45179592	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:45179592C>T	uc002ozo.4	+	2	954	c.474C>T	c.(472-474)atC>atT	p.I158I	CEACAM19_uc002ozp.4_Silent_p.I158I	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	158						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ACGCTGGGATCCTGGCGGCCA	0.577000														103			48		0	0	0.000781405	0	0
SUSD4	55061	broad.mit.edu	37	1	223438088	223438088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:223438088C>T	uc001hnx.3	-	3	1242	c.608G>A	c.(607-609)gGg>gAg	p.G203E	SUSD4_uc001hny.4_Missense_Mutation_p.G203E|SUSD4_uc010puw.2_Missense_Mutation_p.G43E|SUSD4_uc001hnz.2_Missense_Mutation_p.G203E|SUSD4_uc010pux.1_Missense_Mutation_p.G132E	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	203	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATCACAGTCCCCACCGGGAA	0.512000														25			41		0	0	0.000589545	0	0
NOVA1	4857	broad.mit.edu	37	14	26917279	26917279	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:26917279C>T	uc001wqa.3	-	5	1830	c.1044G>A	c.(1042-1044)cgG>cgA	p.R348R	NOVA1_uc001wpy.3_Silent_p.R470R|NOVA1_uc001wpz.3_Silent_p.R446R	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	473	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTTACCTTCCGATTCCTTG	0.453000														18			9		0	0	0.000274275	0	0
TNFRSF8	943	broad.mit.edu	37	1	12202437	12202437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12202437C>T	uc001atq.3	+	14	1859	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	TNFRSF8_uc010obc.2_Missense_Mutation_p.P434L|TNFRSF8_uc001atr.3_Missense_Mutation_p.P83L|TNFRSF8_uc001ats.3_Missense_Mutation_p.P27L	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	546					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCAGAGCCCGAGTTGGAG	0.642000														6			4		0	0	0.000602214	0	0
SOGA1	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:35443718G>A	uc021wcx.1	-	4	2467	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	SOGA1_uc002xgd.1_Silent_p.L471L	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	471								p.L709L(4)|p.L471L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGCATGGATGAGCTTGGTGT	0.637000														25			14		0	0	0.000219431	0	0
DOPEY2	9980	broad.mit.edu	37	21	37619841	37619841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:37619841C>T	uc002yvg.3	+	19	4803	c.4724C>T	c.(4723-4725)tCt>tTt	p.S1575F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1524F|DOPEY2_uc002yvh.3_Missense_Mutation_p.S426F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1575					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				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						GAAAACATTTCTCCAGATTAT	0.353000														58			79		0	0	0.000781405	0	0
ABHD4	63874	broad.mit.edu	37	14	23072910	23072911	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:23072910_23072911CC>AT	uc001wgm.3	+	3	635_636	c.566_567CC>AT	c.(565-567)gcc>gAT	p.A189D	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.A189D|ABHD4_uc010tnb.2_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	189					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GCACCCCCAGCCTGGGTCAAAG	0.545000														33			17		0	0	6.4e-05	0	0
SWI5	375757	broad.mit.edu	37	9	131048271	131048271	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:131048271A>G	uc004bup.3	+	3	602	c.602A>G	c.(601-603)aAt>aGt	p.N201S	SWI5_uc010mxx.1_Missense_Mutation_p.N201S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	201					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CACGAGTACAATGACATCAAG	0.527000														10			56		0	0	0.000781405	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887485	12887485	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12887485G>A	uc001auk.2	-	2	568	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	124										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCAGGTGAGGTATTCAT	0.473000														148			91		0	0	0.000781405	0	0
LRRN1	57633	broad.mit.edu	37	3	3887829	3887829	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:3887829C>A	uc003bpt.4	+	1	2265	c.1504C>A	c.(1504-1506)Cag>Aag	p.Q502K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.Q502K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	502	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTGTTGCCCAGAATGTCCA	0.433000														43			5		0.00116845	0.00809969	0.00116845	1	0
KIAA1109	84162	broad.mit.edu	37	4	123230600	123230601	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:123230600_123230601GG>AA	uc003ieh.3	+	56	10278_10279	c.10233_10234GG>AA	c.(10231-10236)ggggat>ggAAat	p.D3412N	KIAA1109_uc003iel.1_Missense_Mutation_p.D1347N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3412					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAATTCATGGGGATTTAGTGAT	0.337000														22			11		0	0	6.4e-05	0	0
RCSD1	92241	broad.mit.edu	37	1	167666966	167666966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:167666966G>A	uc001gem.3	+	5	1292	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	RCSD1_uc010pli.2_Missense_Mutation_p.E339K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	369										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AAAAGGCAAGGAAAAACAACA	0.627000														4			9		0	0	0.000442599	0	0
CHD1	1105	broad.mit.edu	37	5	98194037	98194037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:98194037G>A	uc003knf.3	-	33	4782	c.4634C>T	c.(4633-4635)tCc>tTc	p.S1545F	CHD1_uc010jbn.3_Missense_Mutation_p.S271F	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1545					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTATCAGAGGAATAACTGTC	0.338000														40			36		0	0	0.000781405	0	0
NEDD4	4734	broad.mit.edu	37	15	56155188	56155188	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:56155188C>T	uc002adj.3	-	4	2154	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	NEDD4_uc002adl.3_Silent_p.E199E|NEDD4_uc002adi.3_Silent_p.E546E|NEDD4_uc010ugj.2_Silent_p.E602E|NEDD4_uc010bfm.3_Silent_p.E601E|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	618	Mediates interaction with TNIK (By similarity).|WW 1.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TATCCTGCCTCTCTTCCCACC	0.473000														20			11		0	0	0.000978159	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10428305C>T	uc010coi.3	-	33	4868	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|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.	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1579H(1)		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						CAGCAATTTTCCTATCAACCT	0.453000														50			40		0	0	0.000437636	0	0
OR6C76	390326	broad.mit.edu	37	12	55820846	55820846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:55820846G>A	uc010spm.2	+	0	809	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGACAAAAGGAGTAGCTATA	0.403000														13			6		0	0	0.00116845	0	0
DNAH11	8701	broad.mit.edu	37	7	21678670	21678670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:21678670C>T	uc003svc.3	+	27	4977	c.4946C>T	c.(4945-4947)gCt>gTt	p.A1649V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1649	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAAAAGGAGCTCAGCCTAAA	0.403000									Kartagener syndrome					33			8		0	0	0.000157383	0	0
ZZEF1	23140	broad.mit.edu	37	17	3967729	3967730	+	Missense_Mutation	DNP	GG	AA	AA	rs112690569		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:3967729_3967730GG>AA	uc002fxe.3	-	28	4707_4708	c.4643_4644CC>TT	c.(4642-4644)ccc>cTT	p.P1548L	ZZEF1_uc002fxh.3_5'Flank|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.P161L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1548							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTTCACTGTGGGCACCAGTCT	0.589000														51			36		0	0	6.4e-05	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146802	70146802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:70146802C>T	uc003hej.3	+	0	586	c.584C>T	c.(583-585)cCt>cTt	p.P195L	UGT2B28_uc010ihr.3_Missense_Mutation_p.P195L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	195					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCCTACATACCTGTTGTTATG	0.393000														15			8		0	0	0.000157383	0	0
NTRK3	4916	broad.mit.edu	37	15	88420243	88420243	+	Silent	SNP	A	G	G	rs78821883		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:88420243A>G	uc002bme.2	-	19	2749	c.2443T>C	c.(2443-2445)Ttg>Ctg	p.L815L	NTRK3_uc002bmh.2_Silent_p.L793L|NTRK3_uc002bmf.2_Silent_p.L801L|NTRK3_uc021sua.1_Silent_p.L793L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	815	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)			TTGATGTTCAACCGCTGCTGT	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				41			15		0	0	0.000219431	0	0
UNC13A	23025	broad.mit.edu	37	19	17752257	17752257	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:17752257T>A	uc021uqk.1	-	20	2620	c.2578A>T	c.(2578-2580)Att>Ttt	p.I860F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	861					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCGTCCACAATCTCCTGGGCT	0.567000														15			19		0	0	0.00121646	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048429	41048429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:41048429C>T	uc003jmj.4	-	15	2171	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E116K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	561							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						CTTGTACCTTCCAGAGGCTGC	0.453000														23			7		0	0	0.000274275	0	0
LRRC52	440699	broad.mit.edu	37	1	165532895	165532895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:165532895G>A	uc001gde.2	+	1	832	c.776G>A	c.(775-777)gGa>gAa	p.G259E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	259						integral to membrane		p.A258S(1)|p.A258T(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCGCCGCGGGAACTGTGGCT	0.592000														27			16		0	0	0.000958276	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461134	160461134	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:160461134G>A	uc001fwe.2	-	2	497	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SLAMF6_uc010pji.2_Nonsense_Mutation_p.Q32*|SLAMF6_uc001fwd.2_Nonsense_Mutation_p.Q143*|SLAMF6_uc010pjh.2_Nonsense_Mutation_p.Q94*|SLAMF6_uc010pjj.2_Nonsense_Mutation_p.Q32*|SLAMF6_uc009wtm.2_Nonsense_Mutation_p.Q94*	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	143	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCATATTCTGAAATAGCTGA	0.433000														18			30		0	0	0.00178596	0	0
DPT	1805	broad.mit.edu	37	1	168698205	168698205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:168698205C>T	uc001gfp.3	-	0	238	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	70	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CATTGTCTGTCAGAACCTTCC	0.582000														32			14		0	0	0.000308642	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034769	107034769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:107034769C>T	uc001ysz.3	-	1	340	c.311G>A	c.(310-312)aGc>aAc	p.S104N	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		GGCCTTCAGGCTGCTCCACTG	0.582000														35			57		0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104126784	104126784	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:104126784G>A	uc001tjw.3	+	51	5470	c.5284_splice	c.e51-1	p.D1762_splice	STAB2_uc009zug.3_Splice_Site	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1762	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGTTTCAGGACTCAGGTTT	0.577000														15			10		0	0	0.00136819	0	0
C8orf74	203076	broad.mit.edu	37	8	10557879	10557879	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:10557879C>T	uc003wtd.1	+	3	812	c.783C>T	c.(781-783)gcC>gcT	p.A261A	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	261										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCTCAACGCCCCCACCCCTA	0.592000														25			9		0	0	0.000442599	0	0
S100A13	6284	broad.mit.edu	37	1	153598807	153598807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:153598807G>A	uc001fcf.4	-	1	316	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	S100A13_uc001fcg.3_Missense_Mutation_p.H48Y|S100A13_uc009woh.3_Missense_Mutation_p.H48Y|S100A13_uc001fch.3_Missense_Mutation_p.H48Y|S100A13_uc001fci.3_Missense_Mutation_p.H48Y|S100A13_uc001fcj.3_Missense_Mutation_p.H48Y|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_005970	Q99584	S10AD_HUMAN	Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA.	48	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTGAGCAGATGGGGCAACTGC	0.537000														150			51		0	0	0.000781405	0	0
DDX3X	1654	broad.mit.edu	37	X	41202597	41202598	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:41202597_41202598CC>TT	uc004dfe.3	+	6	1527_1528	c.672_673CC>TT	c.(670-675)gcccaa>gcTTaa	p.Q225*	DDX3X_uc010nhf.1_Nonsense_Mutation_p.Q209*|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Nonsense_Mutation_p.Q225*|DDX3X_uc011mkq.2_Nonsense_Mutation_p.Q209*|DDX3X_uc011mkr.2_Nonsense_Mutation_p.Q225*|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	225	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGGCTTGTGCCCAAACAGGTAA	0.361000										HNSCC(61;0.18)				1			13		0	0	6.4e-05	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														8			7		0	0	0.000157383	0	0
C15orf43	145645	broad.mit.edu	37	15	45258435	45258435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:45258435C>T	uc001zuk.3	+	4	442	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	143										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAAGAATTATCCAAAAGGTAT	0.318000														8			6		0	0	0.00116845	0	0
MAPK1	5594	broad.mit.edu	37	22	22127173	22127173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:22127173G>A	uc002zvn.3	-	6	1195	c.955C>T	c.(955-957)Ccg>Tcg	p.P319S	MAPK1_uc002zvo.3_Missense_Mutation_p.P319S|MAPK1_uc010gtk.1_Missense_Mutation_p.P275S	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	319					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCGTCACTCGGGTCGTAATAC	0.478000														66			25		0	0	0.000878237	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19199413	19199413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:19199413G>A	uc001bbb.3	-	14	1894	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	ALDH4A1_uc010ocu.2_Missense_Mutation_p.R480C|ALDH4A1_uc001bbc.3_Missense_Mutation_p.R540C|ALDH4A1_uc021ohl.1_Missense_Mutation_p.R489C	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	540					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GACGTCCAGCGCAGGATGTAG	0.587000														29			21		0	0	0.000295444	0	0
AMPD2	271	broad.mit.edu	37	1	110167981	110167982	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:110167981_110167982CC>TT	uc009wfh.1	+	2	852_853	c.310_311CC>TT	c.(310-312)ccc>TTc	p.P104F	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.P23F|AMPD2_uc001dyc.1_Missense_Mutation_p.P104F|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	104					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTGCCGGGCCCCGCCCCCTGC	0.678000														19			15		0	0	6.4e-05	0	0
CHD9	80205	broad.mit.edu	37	16	53265346	53265346	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:53265346T>C	uc002ehb.3	+	7	2466	c.2302T>C	c.(2302-2304)Ttt>Ctt	p.F768L	CHD9_uc002egy.3_Missense_Mutation_p.F768L|CHD9_uc002ehc.3_Missense_Mutation_p.F768L|CHD9_uc002ehd.2_Missense_Mutation_p.F294L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	768					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAGAACCATTTAACCCAGA	0.308000														18			9		0	0	0.000673444	0	0
ADAM28	10863	broad.mit.edu	37	8	24171031	24171031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:24171031G>A	uc003xdy.3	+	5	597	c.514G>A	c.(514-516)Gat>Aat	p.D172N	ADAM28_uc003xdx.3_Missense_Mutation_p.D172N|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	172					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTGTGGGATGGATGGTGTGTT	0.433000														6			13		0	0	0.000566183	0	0
AGPAT6	137964	broad.mit.edu	37	8	41456738	41456738	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:41456738T>A	uc003xnz.2	+	1	1019	c.80T>A	c.(79-81)cTc>cAc	p.L27H		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	27					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACCCTCCTTCTCGTTTTCATC	0.463000														41			65		0	0	0.000781405	0	0
CHD7	55636	broad.mit.edu	37	8	61750375	61750375	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:61750375G>C	uc003xue.3	+	17	4826	c.4334G>C	c.(4333-4335)aGa>aCa	p.R1445T	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1445	Helicase C-terminal.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGAGTGGAAGAGAAAATGCT	0.388000														18			5		0	0	0.00116845	0	0
ZNF629	23361	broad.mit.edu	37	16	30793710	30793710	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:30793710G>A	uc002dzs.1	-	2	2147	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGCCCTCCTGACCCTCCGGC	0.657000														7			4		0	0	0.00024832	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150667295	150667296	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:150667295_150667296CG>AT	uc001evj.2	-	1	236_237	c.19_20CG>AT	c.(19-21)cgg>ATg	p.R7M	GOLPH3L_uc010pci.1_Missense_Mutation_p.R7M	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	7						Golgi cisterna membrane		p.R7L(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCGACGGGCCCGGTGAGTTAAA	0.391000														123			5		0	0	6.4e-05	0	0
FZD2	2535	broad.mit.edu	37	17	42636091	42636092	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:42636091_42636092GG>AA	uc002igx.2	+	0	1280_1281	c.1035_1036GG>AA	c.(1033-1038)tgggtc>tgAAtc	p.345_346WV>*I		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	345					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATCTGGTGGGTCATCCTGTC	0.619000														31			11		0	0	6.4e-05	0	0
LGR4	55366	broad.mit.edu	37	11	27397858	27397858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:27397858G>A	uc001mrj.4	-	12	1654	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	LGR4_uc001mrk.4_Missense_Mutation_p.S366F	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	390						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AATCCTTAGAGATATCAGGCC	0.294000														55			39		0	0	0.000781405	0	0
GALK1	2584	broad.mit.edu	37	17	73758912	73758912	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:73758912G>C	uc002jpk.3	-	4	729	c.666C>G	c.(664-666)atC>atG	p.I222M	GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	222					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGAGTTGGTGATGAGCACGG	0.642000														35			11		0	0	0.000978159	0	0
ASXL3	80816	broad.mit.edu	37	18	31320290	31320290	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:31320290C>T	uc010dmg.1	+	10	2977	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	ASXL3_uc002kxq.2_Silent_p.I681I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTTGGAATCTGTAAGGAAA	0.443000														9			4		0	0	0.000602214	0	0
ITGB2	3689	broad.mit.edu	37	21	46309219	46309219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:46309219C>T	uc002zgd.2	-	11	1893	c.1849G>A	c.(1849-1851)Ggc>Agc	p.G617S	ITGB2_uc002zgf.3_Missense_Mutation_p.G617S|ITGB2_uc011afl.1_Missense_Mutation_p.G539S|ITGB2_uc010gpw.2_Missense_Mutation_p.G560S|ITGB2_uc002zgg.2_Missense_Mutation_p.G617S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	617	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGGGGCAGCCGGGGCACTCC	0.682000														31			17		0	0	0.000229342	0	0
ZNF579	163033	broad.mit.edu	37	19	56090016	56090016	+	Silent	SNP	G	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:56090016G>C	uc002qlh.3	-	1	1043	c.990C>G	c.(988-990)ccC>ccG	p.P330P	ZNF579_uc021vby.1_Silent_p.P330P	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TGCCCGCCGCGGGCAGCGGGG	0.751000														13			11		0	0	0.000219431	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578046	14578046	+	Silent	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14578046A>G	uc001rbw.3	+	1	1355	c.1197A>G	c.(1195-1197)gaA>gaG	p.E399E	ATF7IP_uc010shs.1_Silent_p.E399E|ATF7IP_uc001rbu.3_Silent_p.E399E|ATF7IP_uc001rbv.1_Silent_p.E399E|ATF7IP_uc001rbx.3_Silent_p.E399E|ATF7IP_uc010sht.1_Silent_p.E399E|ATF7IP_uc001rby.4_Silent_p.E399E|ATF7IP_uc001rbz.1_Silent_p.E399E|ATF7IP_uc001rca.3_Silent_p.E399E|ATF7IP_uc001rcb.3_Silent_p.E10E	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	399	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAAAGAATGAAGATGAAACTT	0.333000														35			29		0	0	0.00106085	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822972	38822972	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:38822972T>G	uc003avs.1	-	1	1263	c.1166A>C	c.(1165-1167)gAg>gCg	p.E389A	KCNJ4_uc003avt.1_Missense_Mutation_p.E389A|KCNJ4_uc021wpp.1_Missense_Mutation_p.E389A	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	389	Poly-Glu.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCTGCCTCCTCCTCCATCTC	0.682000														71			28		0	0	0.000409698	0	0
MBD1	4152	broad.mit.edu	37	18	47803466	47803466	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:47803466G>A	uc002lem.4	-	2	656	c.219C>T	c.(217-219)gcC>gcT	p.A73A	MBD1_uc002lef.3_5'Flank|MBD1_uc002leg.3_Silent_p.A73A|MBD1_uc010dow.2_Silent_p.A73A|MBD1_uc010xdi.2_Silent_p.A99A|MBD1_uc010xdj.2_Silent_p.A73A|MBD1_uc002lel.4_Silent_p.A73A|MBD1_uc002len.3_Silent_p.A73A|MBD1_uc002leh.4_Silent_p.A73A|MBD1_uc002lei.4_Silent_p.A73A|MBD1_uc002lej.4_Silent_p.A73A|MBD1_uc002lek.4_Silent_p.A73A|MBD1_uc021ukd.1_Silent_p.A73A|MBD1_uc021uke.1_Silent_p.A73A|MBD1_uc010xdk.2_Silent_p.A73A|MBD1_uc010dox.1_Silent_p.A73A|MBD1_uc002leo.2_Silent_p.A73A	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	73					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTACCTTGGGGGCTGGATAGC	0.532000														12			4		0	0	0.000602214	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884037	29884037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:29884037C>T	uc010vec.2	-	14	2761	c.2516G>A	c.(2515-2517)cGa>cAa	p.R839Q	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.R769Q|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Intron|SEZ6L2_uc010ved.2_Missense_Mutation_p.R795Q|SEZ6L2_uc002dus.4_Missense_Mutation_p.R725Q	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	829						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTTTTCGGTTGTCCAG	0.672000														36			29		0	0	0.000409698	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471449	20471449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:20471449C>T	uc010bwe.3	+	2	252	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R5*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R5*|ACSM2A_uc010vay.2_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	5					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R5Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCATTGGCTGCGAAAAGTTCA	0.488000														9			11		0	0	0.00136819	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44014378	44014379	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:44014378_44014379GG>TT	uc002rtl.3	+	3	320_321	c.220_221GG>TT	c.(220-222)ggg>TTg	p.G74L	DYNC2LI1_uc002rth.3_Missense_Mutation_p.G74L|DYNC2LI1_uc002rti.3_Missense_Mutation_p.G74L|DYNC2LI1_uc002rtk.3_Missense_Mutation_p.G74L|DYNC2LI1_uc010ynz.2_Intron|DYNC2LI1_uc021vgq.1_5'UTR	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	74						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGAGCAAAAGGGCACAACACA	0.366000														345			9		0	0	6.4e-05	0	0
PARP8	79668	broad.mit.edu	37	5	50090740	50090740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:50090740C>T	uc003jon.4	+	12	1099	c.917C>T	c.(916-918)tCt>tTt	p.S306F	PARP8_uc011cpz.2_Missense_Mutation_p.S198F|PARP8_uc003joo.3_Missense_Mutation_p.S306F|PARP8_uc003jop.3_Missense_Mutation_p.S306F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	306						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAACTGAAATCTGAGCAGGAC	0.468000														18			17		0	0	0.000958276	0	0
DLL3	10683	broad.mit.edu	37	19	39989682	39989682	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:39989682A>G	uc002olx.2	+	1	127	c.69_splice	c.e1+1	p.Q23_splice	DLL3_uc010egq.3_Splice_Site_p.Q23_splice|DLL3_uc002olw.2_Splice_Site_p.Q23_splice	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	23					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCCTCCCCCAGGTCAGAGCC	0.662000														31			10		0	0	0.000673444	0	0
PDZD2	23037	broad.mit.edu	37	5	31983460	31983460	+	Missense_Mutation	SNP	C	T	T	rs34239074	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:31983460C>T	uc003jhl.3	+	2	1064	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PDZD2_uc003jhm.3_Missense_Mutation_p.P226S|PDZD2_uc011cnx.1_Missense_Mutation_p.P52S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	226					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCAGGCCTCCTGCCAACAA	0.577000														28			13		0	0	0.000151284	0	0
MEFV	4210	broad.mit.edu	37	16	3298935	3298935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:3298935C>T	uc002cun.1	-	3	1370	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	MEFV_uc021tbw.1_Missense_Mutation_p.G233R|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	444					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCTCCTCCCCATAGGATCGC	0.532000														99			42		0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154158047	154158047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:154158047G>A	uc004fmt.3	-	13	4189	c.4018C>T	c.(4018-4020)Cca>Tca	p.P1340S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1340	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCTAGTGGGAGTCTGAAT	0.418000														1			21		0	0	0.000295444	0	0
RNF25	64320	broad.mit.edu	37	2	219530920	219530920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:219530920G>A	uc002vit.3	-	5	479	c.391C>T	c.(391-393)Cct>Tct	p.P131S	RNF25_uc010fvw.3_Missense_Mutation_p.P19S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	131					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCATGAGGGATGTTGTTA	0.512000														27			11		0	0	0.000978159	0	0
SLC13A5	284111	broad.mit.edu	37	17	6604350	6604350	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:6604350C>T	uc002gdj.3	-	5	900	c.812G>A	c.(811-813)tGg>tAg	p.W271*	SLC13A5_uc010clq.3_Nonsense_Mutation_p.W228*|SLC13A5_uc002gdk.3_Nonsense_Mutation_p.W254*|SLC13A5_uc010vtf.2_Nonsense_Mutation_p.W271*|SLC13A5_uc002gdl.1_Nonsense_Mutation_p.W253*	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	271						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AAACTGGAGCCACAGCCAGGC	0.473000														24			18		0	0	0.00121646	0	0
LMO7	4008	broad.mit.edu	37	13	76427445	76427446	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:76427445_76427446GG>AA	uc021rkq.1	+	27	4917_4918	c.4582_4583GG>AA	c.(4582-4584)ggt>AAt	p.G1528N	LMO7_uc010thv.2_Missense_Mutation_p.G1246N|LMO7_uc001vjv.3_Missense_Mutation_p.G1295N|LMO7_uc010thw.2_Missense_Mutation_p.G1172N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1580						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCCACCACAGGTGTGGCCACC	0.609000														13			4		0	0	6.4e-05	0	0
IL3	3562	broad.mit.edu	37	5	131398406	131398406	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:131398406G>A	uc003kwe.1	+	4	434	c.381G>A	c.(379-381)cgG>cgA	p.R127R		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	127					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	ATGAATTCCGGAGGAAACTGA	0.483000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			43		0	0	0.000509022	0	0
IFT172	26160	broad.mit.edu	37	2	27684212	27684212	+	Missense_Mutation	SNP	C	T	T	rs148237432		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:27684212C>T	uc002rku.3	-	21	2417	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	789					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTCTCGGGTCAGCAC	0.567000														26			29		0	0	0.001512	0	0
GZMK	3003	broad.mit.edu	37	5	54320538	54320538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:54320538C>T	uc003jpl.1	+	1	159	c.115C>T	c.(115-117)Cca>Tca	p.P39S		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	39	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCATTCCAGGCCATTTATGGC	0.448000														6			12		0	0	0.000151284	0	0
DDX19B	11269	broad.mit.edu	37	16	70404177	70404177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:70404177C>T	uc002eys.3	+	9	1204	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	DDX19B_uc010cfq.1_Nonsense_Mutation_p.Q113*|DDX19B_uc010cfs.3_Nonsense_Mutation_p.Q181*|DDX19B_uc010vlz.2_Nonsense_Mutation_p.Q327*|DDX19B_uc002eyv.3_Nonsense_Mutation_p.Q358*|DDX19B_uc010cfr.3_Nonsense_Mutation_p.Q208*|DDX19B_uc010vma.2_Nonsense_Mutation_p.Q268*	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	359	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AGAAGGCCACCAGGTGGCTCT	0.483000														19			13		0	0	0.00136819	0	0
ATMIN	23300	broad.mit.edu	37	16	81077593	81077594	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:81077593_81077594GG>AA	uc002ffz.1	+	3	1508_1509	c.1490_1491GG>AA	c.(1489-1491)ggg>gAA	p.G497E	ATMIN_uc002fga.2_Missense_Mutation_p.G339E|ATMIN_uc010vnn.1_Missense_Mutation_p.G268E|ATMIN_uc002fgb.1_Missense_Mutation_p.G339E	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	497					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAAACCAGTGGGATAGAAAGTC	0.450000														29			17		0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10408560	10408560	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10408560C>T	uc002gmo.3	-	20	2449	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	785	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGCTGGGCCAGCTTCTCAT	0.438000														13			13		0	0	0.000151284	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352829	41352829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41352829G>A	uc002opl.4	-	4	803	c.782C>T	c.(781-783)cCc>cTc	p.P261L	CYP2A6_uc010ehe.1_Missense_Mutation_p.P57L|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	261					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGGGGAATTGGGATCCAGCGT	0.572000														30			18		0	0	0.00152264	0	0
IMPG1	3617	broad.mit.edu	37	6	76660470	76660470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:76660470G>A	uc003pik.1	-	12	1763	c.1633C>T	c.(1633-1635)Cat>Tat	p.H545Y		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	545					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGAAATGATCTGGGACA	0.488000														21			16		0	0	0.000958276	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588780	6588780	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:6588780T>A	uc003gjf.1	+	3	485	c.449T>A	c.(448-450)gTt>gAt	p.V150D	MAN2B2_uc003gje.1_Missense_Mutation_p.V150D|MAN2B2_uc011bwf.1_Missense_Mutation_p.V150D	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	150					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCCTGGCACGTTGACCCGTTT	0.622000														22			12		0	0	0.000219431	0	0
BRMS1	25855	broad.mit.edu	37	11	66108330	66108330	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:66108330C>T	uc001oho.1	-	5	597	c.450G>A	c.(448-450)ctG>ctA	p.L150L	BRMS1_uc001ohp.1_Silent_p.L150L|BRMS1_uc009yre.3_5'UTR	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	150					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CATAGAGCAGCAGCTTCTCAC	0.632000														12			6		0	0	0.00116845	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735292	110735292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:110735292C>T	uc009wfq.3	+	7	1732	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SLC6A17_uc001dze.1_Missense_Mutation_p.P22L	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	424					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCCTTGACCCCTGCCTTCTG	0.607000														15			9		0	0	0.000442599	0	0
COL4A6	1288	broad.mit.edu	37	X	107408127	107408128	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:107408127_107408128GG>AT	uc004enw.4	-	38	4055_4056	c.3952_3953CC>AT	c.(3952-3954)cct>ATt	p.P1318I	COL4A6_uc004env.4_Missense_Mutation_p.P1317I|COL4A6_uc011msn.2_Missense_Mutation_p.P1293I|COL4A6_uc010npk.3_Missense_Mutation_p.P1293I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1318	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAGCTCTCCAGGGAGGCCAGAA	0.599000									Alport syndrome with Diffuse Leiomyomatosis					4			14		0	0	6.4e-05	0	0
UNC79	57578	broad.mit.edu	37	14	94053205	94053205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:94053205G>A	uc001ybv.1	+	18	2535	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	UNC79_uc001ybs.1_Missense_Mutation_p.D818N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	995						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCCAGAAAAGATCACCCTCA	0.368000														70			55		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197411332	197411332	+	Silent	SNP	G	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:197411332G>T	uc001gtz.3	+	10	4124	c.3915G>T	c.(3913-3915)ccG>ccT	p.P1305P	CRB1_uc010poz.2_Silent_p.P1281P|CRB1_uc009wza.3_Silent_p.P1193P|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.P769P|CRB1_uc010ppd.2_Silent_p.P786P|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1305	EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.P1305Q(1)|p.P1305A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTGATCCGTGTGTCAATG	0.493000														96			37		3.61848e-18	2.60141e-17	0.00170553	1	0
DNMT3B	1789	broad.mit.edu	37	20	31375128	31375128	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:31375128G>A	uc002wyc.3	+	5	846	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.E175E|DNMT3B_uc002wye.3_Silent_p.E175E|DNMT3B_uc010ztz.2_Silent_p.E133E|DNMT3B_uc010zua.2_Silent_p.E99E|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.E187E	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	175	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGACACAGAGGACACACATG	0.657000														42			22		0	0	0.000375601	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935815	151935815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:151935815G>A	uc022chl.1	-	0	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MAGEA3_uc004fgp.3_Missense_Mutation_p.H118Y	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	118	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAAATGAACCAACTCG	0.537000														9			47		0	0	0.000781405	0	0
GSR	2936	broad.mit.edu	37	8	30550507	30550507	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:30550507C>T	uc003xih.2	-	7	995	c.861G>A	c.(859-861)gtG>gtA	p.V287V	GSR_uc022ato.1_Silent_p.V287V|GSR_uc022atp.1_Intron|GSR_uc022atq.1_Intron	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	287					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCAGCACCTCCACGCCAGCGT	0.527000														18			24		0	0	0.00106085	0	0
DSCR9	257203	broad.mit.edu	37	21	38593925	38593925	+	RNA	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:38593925G>A	uc010gnk.2	+	0		c.1037G>A								Homo sapiens mRNA, complete cds.																		TACTCTGCATGAAGCCCTGGG	0.512000														8			15		0	0	0.000219431	0	0
PIGO	84720	broad.mit.edu	37	9	35093549	35093549	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:35093549T>A	uc003zwd.3	-	4	1204	c.808A>T	c.(808-810)Aca>Tca	p.T270S	PIGO_uc003zwe.3_Missense_Mutation_p.T270S|PIGO_uc003zwf.3_Missense_Mutation_p.T270S|PIGO_uc003zwc.1_Missense_Mutation_p.T270S|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	270					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCAGCAGTGTGTCATTCTCC	0.483000														1			8		0	0	0.000673444	0	0
MYH7B	57644	broad.mit.edu	37	20	33586218	33586218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:33586218G>A	uc002xbi.2	+	32	4311	c.3994G>A	c.(3994-3996)Gaa>Aaa	p.E1332K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1290						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACTACAGACGGAAAGCGGTGA	0.657000														35			49		0	0	0.000781405	0	0
UTP20	27340	broad.mit.edu	37	12	101679413	101679413	+	Splice_Site	SNP	C	T	T	rs143038674		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:101679413C>T	uc001tia.1	+	3	349	c.193_splice	c.e3+1	p.G65_splice	UTP20_uc009ztz.1_Splice_Site_p.G65_splice	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	65					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGAACACTTCGGTATTTTCT	0.333000														28			26		0	0	0.000720815	0	0
LIPF	8513	broad.mit.edu	37	10	90429622	90429622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:90429622C>T	uc001kfg.2	+	4	565	c.451C>T	c.(451-453)Cca>Tca	p.P151S	LIPF_uc001kfh.2_Missense_Mutation_p.P128S|LIPF_uc010qmt.2_Missense_Mutation_p.P161S|LIPF_uc010qmu.2_Missense_Mutation_p.P118S	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	151					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATATGACCTTCCAGCCACAAT	0.383000														14			36		0	0	0.00128727	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813746	100813746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:100813746G>A	uc010svi.2	+	11	1892	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SLC17A8_uc009ztx.3_Missense_Mutation_p.E477K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	527					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGACGAATTAGCTGA	0.468000														9			7		0	0	8.12818e-05	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576582	158576582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:158576582G>A	uc010pio.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGCTGCCATGGGCTTTGACA	0.552000														21			11		0	0	0.000978159	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995461	57995461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:57995461C>T	uc010rkd.2	-	0	930	c.887G>A	c.(886-888)aGc>aAc	p.S296N		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTTCCTAAGGCTGTAAAGCAA	0.547000														54			31		0	0	0.000339439	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868853	7868853	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:7868853G>A	uc011mhq.1	-	6	798	c.636C>T	c.(634-636)tcC>tcT	p.S212S	PNPLA4_uc011mhr.1_Silent_p.S212S|PNPLA4_uc011mhs.1_Silent_p.S125S	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GGTTTGCCAGGGACAACTAGA	0.358000														2			6		0	0	0.000157383	0	0
PCSK6	5046	broad.mit.edu	37	15	101929704	101929704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:101929704C>T	uc002bxa.2	-	9	1586	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	PCSK6_uc010bpd.3_Missense_Mutation_p.M295I|PCSK6_uc002bwy.3_Missense_Mutation_p.M424I|PCSK6_uc010bpe.3_Missense_Mutation_p.M421I|PCSK6_uc002bxb.2_Missense_Mutation_p.M424I|PCSK6_uc002bxc.1_Missense_Mutation_p.M424I|PCSK6_uc002bxd.1_Missense_Mutation_p.M424I|PCSK6_uc002bxe.3_Missense_Mutation_p.M424I|PCSK6_uc002bxg.1_Missense_Mutation_p.M424I	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	425	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCCGCCACCATGGGGGCAG	0.502000														90			17		0	0	0.000958276	0	0
PIBF1	10464	broad.mit.edu	37	13	73491275	73491275	+	Silent	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:73491275C>A	uc001vjc.3	+	12	2006	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	PIBF1_uc001vjb.3_Silent_p.P567P|PIBF1_uc010aep.3_Silent_p.P26P	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	567						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTAATGTTCCCACAACAGCCA	0.299000														101			6		0.000274275	0.00192889	0.000274275	1	0
NPFF	8620	broad.mit.edu	37	12	53900650	53900651	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:53900650_53900651CC>TT	uc001sdw.1	-	2	415_416	c.251_252GG>AA	c.(250-252)tgg>tAA	p.W84*		NM_003717	NP_003708	O15130	NPFF_HUMAN	Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA.	84					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						ATTCATTCCTCCAGGATCCCTG	0.564000														50			28		0	0	6.4e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:167162345G>A	uc010fpl.3	-	4	894	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378000														35			38		0	0	0.00148497	0	0
ASIC2	40	broad.mit.edu	37	17	32483320	32483320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:32483320C>T	uc002hhu.3	-	0	506	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	78					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCACCACTTCGTCCACCTTA	0.582000														18			9		0	0	0.000673444	0	0
C1S	716	broad.mit.edu	37	12	7177593	7177593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:7177593G>A	uc001qsj.3	+	14	2424	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	C1S_uc001qsk.3_Missense_Mutation_p.G569S|C1S_uc001qsl.3_Missense_Mutation_p.G569S|C1S_uc009zfr.3_Missense_Mutation_p.G402S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	569	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ACTGATCTCAGGCTGGGGCCG	0.532000														8			7		0	0	8.12818e-05	0	0
ZNF791	163049	broad.mit.edu	37	19	12738711	12738711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:12738711C>T	uc002mua.2	+	3	530	c.368C>T	c.(367-369)aCt>aTt	p.T123I	ZNF791_uc010xml.1_Missense_Mutation_p.T91I|ZNF791_uc010dyu.1_Missense_Mutation_p.T14I|ZNF791_uc010xmm.1_Missense_Mutation_p.T14I	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGTCTCACACTGGATACGAG	0.423000														72			58		0	0	0.000781405	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239723	24239723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:24239723G>A	uc002reo.2	+	3	370	c.356G>A	c.(355-357)gGc>gAc	p.G119D	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	119					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGGGTGCTGGGCTGCACCCCC	0.657000														10			18		0	0	0.000229342	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207568	135207568	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:135207568C>T	uc003laz.1	+	4	1012	c.840C>T	c.(838-840)ctC>ctT	p.L280L	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCGGCCCTCTCCCACCTCAGT	0.507000														17			11		0	0	0.00136819	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534969	96534969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:96534969G>A	uc010qnz.2	+	1	323	c.323G>A	c.(322-324)aGa>aAa	p.R108K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R86K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	108					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGCTAACAGAGGATTTGGT	0.517000														8			20		0	0	0.00047179	0	0
TRA	0	broad.mit.edu	37	14	22192426	22192426	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:22192426G>A	uc021rpa.1	+	1	329	c.201G>A	c.(199-201)ctG>ctA	p.L67L	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		AGTTCCTTCTGAAATACATCA	0.453000														30			23		0	0	0.00127121	0	0
FCRL6	343413	broad.mit.edu	37	1	159778988	159778988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:159778988G>A	uc001fud.4	+	3	599	c.557G>A	c.(556-558)gGt>gAt	p.G186D	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.G193D|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Missense_Mutation_p.G186D	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	186	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCCCCTGAGGGTGGCCAGGTC	0.662000														9			29		0	0	0.000814825	0	0
ZNF568	374900	broad.mit.edu	37	19	37440953	37440953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:37440953C>T	uc002ofc.3	+	6	1416	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.H299Y|ZNF568_uc002ofd.3_Missense_Mutation_p.H236Y|ZNF568_uc010efe.3_Missense_Mutation_p.H236Y|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGAATTCATACTGGGGA	0.378000														14			16		0	0	0.000958276	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434783	1434783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:1434783C>T	uc002lsn.3	+	11	1285	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	366	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGACCCCAGCCAGCA	0.697000														20			8		0	0	0.000442599	0	0
IRF6	3664	broad.mit.edu	37	1	209974644	209974644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:209974644G>A	uc001hhq.2	-	2	419	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	39			P -> A (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTTCCAGGGAATCTGGAAG	0.512000										HNSCC(57;0.16)				85			29		0	0	0.001512	0	0
AKAP17A	8227	broad.mit.edu	37	X	1718147	1718147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:1718147G>A	uc004cqa.3	+	3	1170	c.974G>A	c.(973-975)aGg>aAg	p.R325K	AKAP17A_uc010ncx.1_Missense_Mutation_p.R325K|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	325					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTCGCAAGAGGGAGCAGAAG	0.577000														17			14		0	0	0.000151284	0	0
NR2E1	7101	broad.mit.edu	37	6	108497890	108497891	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:108497890_108497891CC>TT	uc003psg.3	+	3	1198_1199	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	148					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCCGCGGTGTCCACCACTCCAG	0.718000														0			7		0	0	6.4e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152191811	152191811	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:152191811T>G	uc001ezt.1	-	2	2370	c.2294A>C	c.(2293-2295)cAc>cCc	p.H765P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	765					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCGGCCGTGGCCCGAAGA	0.592000														56			11		0	0	0.000978159	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	T	T	rs145326290	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:104449164C>T	uc004bbp.2	-	1	1619	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	340					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTAATTTCGAAAATCCGC	0.517000														4			21		0	0	0.000229342	0	0
MUC5B	727897	broad.mit.edu	37	11	1268882	1268882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1268882C>T	uc001lta.3	+	30	10831	c.10772C>T	c.(10771-10773)tCt>tTt	p.S3591F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3591	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGGGCCCTCTGGCGGGGAC	0.682000														26			15		0	0	0.000958276	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:120022371G>A	uc003ksq.3	+	1	1045	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR16_uc003ksp.3_Silent_p.T271T|PRR16_uc003ksr.3_Silent_p.T224T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	294										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000														11			10		0	0	0.000151284	0	0
C17orf102	400591	broad.mit.edu	37	17	32904560	32904560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:32904560C>T	uc002hie.1	-	1	579	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	164										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						aaagttagttccatgaggaca	0.458000														11			6		0	0	0.00116845	0	0
C17orf74	201243	broad.mit.edu	37	17	7329697	7329697	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:7329697C>T	uc002ggw.3	+	2	460	c.387C>T	c.(385-387)cgC>cgT	p.R129R	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	129	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				gccgccgccgccgccaccgcc	0.597000														28			19		0	0	0.000229342	0	0
MGA	23269	broad.mit.edu	37	15	42042693	42042693	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:42042693C>T	uc010ucy.2	+	16	7069	c.6888C>T	c.(6886-6888)ttC>ttT	p.F2296F	MGA_uc010ucz.2_Silent_p.F2087F|MGA_uc010uda.1_Silent_p.F912F|MGA_uc001zoi.3_Silent_p.F510F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2257						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGCTGACTTCACTGTTTTGG	0.423000														11			11		0	0	0.000978159	0	0
SPATS1	221409	broad.mit.edu	37	6	44310885	44310885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:44310885C>T	uc021yzz.1	+	1	154	c.53C>T	c.(52-54)tCc>tTc	p.S18F	TMEM151B_uc003oxg.3_Intron|SPATS1_uc010jzb.3_5'UTR|SPATS1_uc003oxk.3_Missense_Mutation_p.S18F	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	18										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTCTCCCCTCCATCTCAAGC	0.512000														34			33		0	0	0.000409698	0	0
DOCK1	1793	broad.mit.edu	37	10	128841377	128841377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:128841377C>T	uc010qun.2	+	20	2214	c.2150C>T	c.(2149-2151)cCt>cTt	p.P717L	DOCK1_uc001ljt.3_Missense_Mutation_p.P696L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	696					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATTTTAATCCTGTTTTGGAA	0.289000														4			12		0	0	0.000308642	0	0
C15orf2	23742	broad.mit.edu	37	15	24923572	24923572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:24923572G>A	uc001ywo.3	+	0	3032	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	853					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)		TTTTATATGGGGCTTCCTGGT	0.493000														30			25		0	0	0.000720815	0	0
NBPF1	55672	broad.mit.edu	37	1	16893770	16893770	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:16893770A>C	uc009vos.1	-	24	3631	c.2743T>G	c.(2743-2745)Tca>Gca	p.S915A	NBPF1_uc009vot.1_Missense_Mutation_p.S373A|NBPF1_uc001ayz.1_Missense_Mutation_p.S373A|NBPF1_uc010oce.1_Missense_Mutation_p.S644A	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	915	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGATAACCTGAAGGAGTTGAA	0.488000														464			10		0	0	0.000978159	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:11505081G>A	uc001iks.1	-	13	1940	c.1897C>T	c.(1897-1899)Ccg>Tcg	p.P633S	USP6NL_uc001ikt.3_Missense_Mutation_p.P616S	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000														9			17		0	0	0.000958276	0	0
AK7	122481	broad.mit.edu	37	14	96924440	96924440	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:96924440C>G	uc001yfn.2	+	11	1292	c.1248C>G	c.(1246-1248)aaC>aaG	p.N416K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	416	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGCCCCTAACGATGTagggg	0.507000														18			11		0	0	0.000673444	0	0
CACNA1E	777	broad.mit.edu	37	1	181764090	181764090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:181764090G>A	uc009wxt.3	+	45	6313	c.6118G>A	c.(6118-6120)Gag>Aag	p.E2040K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1997K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1978K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2040					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2040W(1)		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						ATTCTCCATGGAGCGAAGCAG	0.522000														23			36		0	0	0.00170553	0	0
COL7A1	1294	broad.mit.edu	37	3	48626333	48626333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:48626333C>T	uc003ctz.2	-	17	2411	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	804	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTGTAAGCTGTGGCTCCA	0.622000														14			37		0	0	0.000692331	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031536	38031536	+	Silent	SNP	G	A	A	rs35369677	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:38031536G>A	uc002hte.3	+	6	891	c.738G>A	c.(736-738)cgG>cgA	p.R246R	ZPBP2_uc002htf.3_Silent_p.R224R	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	246					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTTTTTCGGAGCCAAGCAT	0.373000														42			19		0	0	0.000229342	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927698	14927698	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14927698G>A	uc009zia.3	+	0	429	c.294G>A	c.(292-294)ctG>ctA	p.L98L	H2AFJ_uc001rch.4_Non-coding_Transcript	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	Homo sapiens H2A histone family, member J (H2AFJ), transcript variant 1, mRNA.	98					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						ACAAGCTGCTGGGCAAAGTGA	0.597000														30			20		0	0	0.000586117	0	0
FGFR4	2264	broad.mit.edu	37	5	176519776	176519776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176519776G>A	uc003mfl.3	+	7	1215	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	FGFR4_uc003mfm.3_Missense_Mutation_p.V350M|FGFR4_uc011dfu.2_Missense_Mutation_p.V350M|FGFR4_uc011dfw.1_Missense_Mutation_p.V350M|FGFR4_uc003mfo.3_Missense_Mutation_p.V350M	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	350					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGGCTCACGGTGCTGCCAGG	0.647000										TSP Lung(9;0.080)				19			10		0	0	0.000978159	0	0
MRVI1	10335	broad.mit.edu	37	11	10615060	10615060	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:10615060G>A	uc010rcc.1	-	16	2540	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.S710S|MRVI1_uc001miw.2_Silent_p.S709S|MRVI1_uc001mix.3_Silent_p.S403S|MRVI1_uc001miz.2_Silent_p.S627S|MRVI1_uc010rcd.1_Silent_p.S512S|MRVI1_uc009ygd.1_Silent_p.S403S|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	691					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGAGGGAATGGATGATGAGC	0.517000														20			12		0	0	0.000219431	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241513566	241513566	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:241513566C>T	uc002vzi.3	+	4	975	c.282C>T	c.(280-282)atC>atT	p.I94I	RNPEPL1_uc002vzj.3_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	94					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCTTCCCCATCGTGGCCATGG	0.622000														33			5		0	0	8.12818e-05	0	0
OR10A3	26496	broad.mit.edu	37	11	7960996	7960996	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:7960996C>T	uc010rbi.2	-	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCACCTGGAGCTCAG	0.408000														16			7		0	0	8.12818e-05	0	0
OR4D9	390199	broad.mit.edu	37	11	59283128	59283128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:59283128C>T	uc010rkv.2	+	0	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	248					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						ACCGTGGTGACCCTGCATTTC	0.557000														47			26		0	0	0.000720815	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196487	19196487	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:19196487G>A	uc021wle.1	-	20	3462	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	CLTCL1_uc021wld.1_Silent_p.I1129I|CLTCL1_uc021wlc.1_Silent_p.I1129I|CLTCL1_uc021wlf.1_Silent_p.I1129I|CLTCL1_uc011agw.1_Silent_p.I1129I|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpd.1_Silent_p.I89I|CLTCL1_uc002zpe.2_Silent_p.I89I	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1129	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGTCCCCTCTGATATAGGAGT	0.537000			T	?	ALCL									12			4		0	0	0.000602214	0	0
MYH2	4620	broad.mit.edu	37	17	10436640	10436640	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10436640G>A	uc010coi.3	-	20	2531	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F801F|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.	801	IQ.				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						CTCTTGCCAAGAACCCTCTGC	0.458000														27			19		0	0	0.00121646	0	0
CSTL1	128817	broad.mit.edu	37	20	23421056	23421056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:23421056C>T	uc002wte.3	+	1	398	c.152C>T	c.(151-153)tCc>tTc	p.S51F	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	51						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					TTCATTCAATCCTACAACAAT	0.478000														38			55		0	0	0.000781405	0	0
RRP12	23223	broad.mit.edu	37	10	99156022	99156022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:99156022G>A	uc001knf.3	-	2	545	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	RRP12_uc010qou.2_Missense_Mutation_p.R136C|RRP12_uc009xvn.3_Missense_Mutation_p.R136C	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	136						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCCTGGGAGCGAATCACCTCA	0.562000														5			17		0	0	0.00152264	0	0
HK3	3101	broad.mit.edu	37	5	176308797	176308797	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176308797G>A	uc003mfa.3	-	16	2381	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	HK3_uc003mez.3_Silent_p.I319I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	763	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGTAAAAGGATGTGGCGGA	0.552000														29			20		0	0	0.00121646	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703747	187703747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:187703747C>T	uc002upu.1	-	3	473	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	145					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGCAGATATCCTCTGAATCA	0.358000														39			40		0	0	0.000781405	0	0
CNOT10	25904	broad.mit.edu	37	3	32811394	32811394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:32811394C>T	uc011axj.1	+	17	2277	c.2200C>T	c.(2200-2202)Cat>Tat	p.H734Y	CNOT10_uc003cfc.1_Missense_Mutation_p.H674Y|CNOT10_uc003cfd.1_Missense_Mutation_p.H673Y|CNOT10_uc003cfe.1_Missense_Mutation_p.H647Y|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H369Y	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	674					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTCAATGATCCATCCTAAAGA	0.448000														47			54		0	0	0.000781405	0	0
ZNF643	65243	broad.mit.edu	37	1	40928242	40928242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:40928242G>A	uc001cfn.2	+	4	883	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	ZNF643_uc001cfl.2_Missense_Mutation_p.E94K|ZNF643_uc001cfm.2_Missense_Mutation_p.E62K	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TAATAAGCTAGAAAGCCAACA	0.418000														49			49		0	0	0.000781405	0	0
TRPV4	59341	broad.mit.edu	37	12	110236480	110236480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:110236480G>A	uc001tpj.2	-	4	1186	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	TRPV4_uc001tpg.2_Missense_Mutation_p.A330V|TRPV4_uc021rdp.1_Missense_Mutation_p.A364V|TRPV4_uc001tph.2_Missense_Mutation_p.A317V|TRPV4_uc001tpi.2_Missense_Mutation_p.A317V|TRPV4_uc001tpk.2_Missense_Mutation_p.A364V	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	364					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTTGAGCACGGCCTCCAGGTT	0.592000														16			18		0	0	0.000375601	0	0
TDRD9	122402	broad.mit.edu	37	14	104493225	104493226	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:104493225_104493226CC>TT	uc001yom.4	+	27	3261_3262	c.3231_3232CC>TT	c.(3229-3234)gtcctc>gtTTtc	p.L1078F	TDRD9_uc001yon.4_Missense_Mutation_p.L816F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1078					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TAAGAGACGTCCTCATCCAGCA	0.574000														16			14		0	0	6.4e-05	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:73046495C>T	uc004ebn.2	+	0		c.34456C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTGGGATTTCCCCAGGTCTT	0.443000														4			31		0	0	0.000339439	0	0
GALNT9	50614	broad.mit.edu	37	12	132681656	132681656	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:132681656T>G	uc001ukc.4	-	10	1924	c.1808A>C	c.(1807-1809)cAc>cCc	p.H603P	GALNT9_uc009zyr.3_Missense_Mutation_p.H377P|GALNT9_uc001ukb.3_Missense_Mutation_p.H460P|GALNT9_uc001uka.3_Missense_Mutation_p.H237P	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	603					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GTGGGGTCAGTGCCGTGCGTG	0.637000														34			10		0	0	0.00136819	0	0
ENO3	2027	broad.mit.edu	37	17	4859297	4859297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:4859297C>T	uc010vst.2	+	3	616	c.434C>T	c.(433-435)tCg>tTg	p.S145L	ENO3_uc002gab.4_Missense_Mutation_p.S309L|ENO3_uc002gac.4_Missense_Mutation_p.S309L|ENO3_uc010vss.2_Missense_Mutation_p.S266L	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	309					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TCCTTCCTCTCGGGGGTGAAC	0.577000														44			28		0	0	0.00178596	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805736	102805736	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:102805736T>G	uc002tbs.3	+	2	385	c.259T>G	c.(259-261)Tgg>Ggg	p.W87G	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	87	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CCCCATGGAATGGGGGGACTC	0.348000														25			13		0	0	0.000422831	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502190	95502190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:95502190G>A	uc003ygo.2	-	22	5332	c.5261C>T	c.(5260-5262)cCa>cTa	p.P1754L	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1754					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGGTCGTAATGGTGGAAGAGG	0.423000														33			34		0	0	0.00170553	0	0
ARID2	196528	broad.mit.edu	37	12	46205282	46205282	+	Silent	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:46205282T>G	uc001ros.1	+	3	366	c.366T>G	c.(364-366)ctT>ctG	p.L122L	ARID2_uc001ror.3_Silent_p.L122L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	122					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCCACAGCTTCCTATTGGTG	0.408000			"""N, S, F"""		hepatocellular carcinoma									17			6		0	0	8.12818e-05	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329157	131329158	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:131329157_131329158CC>TT	uc004bvl.4	+	1	280_281	c.138_139CC>TT	c.(136-141)ttccag>ttTTag	p.Q47*	SPTAN1_uc011mbg.2_Nonsense_Mutation_p.Q47*|SPTAN1_uc011mbh.2_Nonsense_Mutation_p.Q59*|SPTAN1_uc004bvm.4_Nonsense_Mutation_p.Q47*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.Q47*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	47					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTATCGATTCCAGTTCTTTCA	0.470000														7			60		0	0	6.4e-05	0	0
KIF21A	55605	broad.mit.edu	37	12	39752106	39752107	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:39752106_39752107TT>AA	uc001rly.3	-	7	1508_1509	c.1088_1089AA>TT	c.(1087-1089)aaa>aTT	p.K363I	KIF21A_uc001rlx.3_Missense_Mutation_p.K363I|KIF21A_uc001rlz.3_Missense_Mutation_p.K363I|KIF21A_uc010skl.2_Missense_Mutation_p.K363I	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	363					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GATTGGCGTATTTCAGGGTGTT	0.401000														82			40		0	0	6.4e-05	0	0
COL11A2	1302	broad.mit.edu	37	6	33137244	33137244	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:33137244C>T	uc003ocx.1	-	50	3942	c.3714G>A	c.(3712-3714)gaG>gaA	p.E1238E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.E1152E|COL11A2_uc003ocz.1_Silent_p.E1131E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1238	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACTCTCCTTTCTCTCCACGTT	0.622000														30			14		0	0	0.000958276	0	0
DGKB	1607	broad.mit.edu	37	7	14378184	14378184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:14378184C>T	uc003ssz.3	-	21	2268	c.2081G>A	c.(2080-2082)aGg>aAg	p.R694K	DGKB_uc011jxt.2_Missense_Mutation_p.R675K|DGKB_uc003sta.3_Missense_Mutation_p.R694K|DGKB_uc011jxu.2_Missense_Mutation_p.R693K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	694					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GACGGTGGTCCTTTTGTCAGA	0.393000														90			25		0	0	0.000409698	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39963	39963	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrGL000218.1:39963C>T	uc011mfn.2	-	3	443	c.354G>A	c.(352-354)aaG>aaA	p.K118K	LOC100233156_uc003jah.2_Silent_p.K118K					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGTTCCTCCTTGTCCTTGA	0.607000														11			5		0	0	0.000602214	0	0
HMCN1	83872	broad.mit.edu	37	1	186024788	186024788	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:186024788T>A	uc001grq.1	+	44	7355	c.7126T>A	c.(7126-7128)Tat>Aat	p.Y2376N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2376	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAAAAAATATGACTTAAG	0.428000														7			24		0	0	0.000878237	0	0
ZNF556	80032	broad.mit.edu	37	19	2877867	2877867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:2877867G>A	uc002lwp.1	+	3	998	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	ZNF556_uc002lwq.3_Missense_Mutation_p.R303Q	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTTCAACGACACGTGAGA	0.507000														22			13		0	0	0.00136819	0	0
LCMT1	51451	broad.mit.edu	37	16	25175983	25175983	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:25175983C>A	uc002dnx.1	+	6	792	c.634C>A	c.(634-636)Ctc>Atc	p.L212I	LCMT1_uc002dny.1_Missense_Mutation_p.L157I	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	212							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GTCCGCAAACCTCCTGAAGTG	0.443000														49			20		1.00905e-13	7.20084e-13	0.00121646	1	0
SAMD7	344658	broad.mit.edu	37	3	169637367	169637367	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:169637367G>A	uc003fgd.3	+	2	348	c.81G>A	c.(79-81)gtG>gtA	p.V27V	SAMD7_uc003fge.3_Silent_p.V27V|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	27										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CTCCAACTGTGGACAGGTATT	0.413000														34			34		0	0	0.000953801	0	0
HFM1	164045	broad.mit.edu	37	1	91843722	91843722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:91843722C>T	uc001doa.4	-	10	1354	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	HFM1_uc010osu.2_Missense_Mutation_p.E98K|HFM1_uc010osv.1_Missense_Mutation_p.E103K|HFM1_uc001doc.1_Missense_Mutation_p.E419K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	419	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCACGATTTTCATCTTTTACA	0.289000														13			7		0	0	8.12818e-05	0	0
C8orf76	84933	broad.mit.edu	37	8	124250170	124250170	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:124250170C>T	uc003yqc.2	-	2	277	c.225G>A	c.(223-225)caG>caA	p.Q75Q	C8orf76_uc003yqd.3_Silent_p.Q43Q	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	75							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGAATACTCCTGCAGTGCTT	0.398000														43			11		0	0	0.000219431	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223131	99223131	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:99223131C>T	uc001tge.2	-	19	3304	c.2887_splice	c.e19-1	p.E963_splice	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Splice_Site_p.E260_splice|ANKS1B_uc010svd.2_Splice_Site|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_Splice_Site|ANKS1B_uc010svf.2_Splice_Site|ANKS1B_uc010sve.2_Splice_Site|ANKS1B_uc001tgh.4_Splice_Site|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Splice_Site_p.E189_splice|ANKS1B_uc009zts.2_Splice_Site_p.E189_splice|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	963						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCACTGGGTTCCTGAATGGAA	0.443000														13			11		0	0	0.00136819	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854486	18854486	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:18854486C>T	uc021qvx.1	-	8	1157	c.966G>A	c.(964-966)aaG>aaA	p.K322K	PLCZ1_uc001rdv.4_Silent_p.K218K|PLCZ1_uc001rdw.4_Silent_p.K63K|PLCZ1_uc001rdu.1_Silent_p.K104K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	322					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCCCTGTTTCCTTGTCTTGAT	0.408000														20			14		0	0	0.000219431	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467001	21467001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:21467001C>T	uc003cce.3	-	5	1243	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	279						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTTGCGTTTCCGAGTTGACG	0.413000														32			34		0	0	0.00170553	0	0
LAMA3	3909	broad.mit.edu	37	18	21523870	21523871	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:21523870_21523871GG>AA	uc002kuq.3	+	68	9231_9232	c.9145_9146GG>AA	c.(9145-9147)ggg>AAg	p.G3049K	LAMA3_uc002kur.3_Missense_Mutation_p.G2993K|LAMA3_uc002kus.4_Missense_Mutation_p.G1440K|LAMA3_uc002kut.4_Missense_Mutation_p.G1384K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3049	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTGCACTGGGGACAGATGGG	0.470000														37			11		0	0	6.4e-05	0	0
GPHB5	122876	broad.mit.edu	37	14	63784530	63784530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:63784530C>T	uc021rud.1	-	1	91	c.34G>A	c.(34-36)Gcc>Acc	p.A12T		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	12						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGGAGGAGGGCCATGGGGCCA	0.582000														12			7		0	0	0.000673444	0	0
GPR98	84059	broad.mit.edu	37	5	90016856	90016856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:90016856C>T	uc003kju.3	+	44	9824	c.9728C>T	c.(9727-9729)tCt>tTt	p.S3243F	GPR98_uc003kjt.3_Missense_Mutation_p.S949F|GPR98_uc003kjv.3_Missense_Mutation_p.S843F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3243					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGACAGTATCTGAAACAGCC	0.353000														35			27		0	0	0.00106085	0	0
SPRR3	6707	broad.mit.edu	37	1	152975748	152975748	+	Silent	SNP	G	A	A	rs61733607	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:152975748G>A	uc021ozo.1	+	0	252	c.252G>A	c.(250-252)aaG>aaA	p.K84K	SPRR3_uc001fax.4_Silent_p.K84K|SPRR3_uc001faz.4_Silent_p.K84K|SPRR3_uc001fay.2_Silent_p.K76K	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	84	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGTACCAAGGTCCCTGAGC	0.597000														15			7		0	0	0.000274275	0	0
AGPS	8540	broad.mit.edu	37	2	178326699	178326699	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:178326699C>A	uc002ull.2	+	8	996	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	AGPS_uc010zfb.1_Missense_Mutation_p.R227S	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	317	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.R317R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GGTATCTACTCGCGCATCAGG	0.333000														72			5		0.00116845	0.00809969	0.00116845	1	0
DMBT1	1755	broad.mit.edu	37	10	124402887	124402887	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:124402887C>T	uc001lgk.1	+	52	7321	c.7215C>T	c.(7213-7215)ccC>ccT	p.P2405P	DMBT1_uc001lgl.1_Silent_p.P2395P|DMBT1_uc001lgm.1_Silent_p.P1777P|DMBT1_uc021qaf.1_Silent_p.P2405P|DMBT1_uc021qag.1_Silent_p.P2395P|DMBT1_uc021qah.1_Silent_p.P1777P|DMBT1_uc009xzz.1_Silent_p.P2404P|DMBT1_uc010qtx.1_Silent_p.P1125P|DMBT1_uc009yab.1_Silent_p.P1108P|DMBT1_uc009yac.1_Silent_p.P699P	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2405				P -> A (in Ref. 5; CAC44122).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGACCCCCCCACGCCGAG	0.647000														1			10		0	0	0.000442599	0	0
SPEG	10290	broad.mit.edu	37	2	220337662	220337662	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220337662C>T	uc010fwg.3	+	15	3991	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1331	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGCTCGGACCAGTGGACGGC	0.657000														18			12		0	0	0.000219431	0	0
COL4A3	1285	broad.mit.edu	37	2	228147222	228147222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:228147222G>A	uc002vom.2	+	31	2792	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	877	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGATATCCAGGAAATCCGGGA	0.438000														26			26		0	0	0.00127121	0	0
PABPN1L	390748	broad.mit.edu	37	16	88932317	88932317	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:88932317G>A	uc002fmj.3	-	1	342	c.288C>T	c.(286-288)gcC>gcT	p.A96A	PABPN1L_uc010vpd.2_Silent_p.A96A|PABPN1L_uc010vpe.2_Silent_p.A96A|PABPN1L_uc002fmi.3_Silent_p.A96A			A6NDY0	EPAB2_HUMAN	Homo sapiens poly(A) binding protein, nuclear 1-like (cytoplasmic) (PABPN1L), mRNA.	96						cytoplasm	RNA binding|nucleotide binding			kidney(1)	1						CCTGCTCCATGGCACACACCT	0.687000														12			4		0	0	0.000602214	0	0
USP24	23358	broad.mit.edu	37	1	55599781	55599781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:55599781G>A	uc021onw.1	-	29	3596	c.3343C>T	c.(3343-3345)Cag>Tag	p.Q1115*	USP24_uc001cyg.4_Nonsense_Mutation_p.Q949*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1115					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGGCTTCCTGAATGGCTGGA	0.343000														5			6		0	0	0.000157383	0	0
C3orf15	89876	broad.mit.edu	37	3	119422020	119422020	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:119422020G>A	uc003ede.4	+	0	152	c.75G>A	c.(73-75)tcG>tcA	p.S25S	C3orf15_uc010hqx.1_Silent_p.S25S|C3orf15_uc003edc.2_Silent_p.S25S|C3orf15_uc010hqy.2_Silent_p.S25S|C3orf15_uc010hqz.3_5'UTR|C3orf15_uc011bjd.2_5'UTR|C3orf15_uc011bje.2_5'UTR|C3orf15_uc010hra.2_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	25						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GGGAGAGGTCGCGGGCTGGGA	0.642000														2			3		0	0	6.4e-05	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225634	56225634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:56225634C>T	uc003hau.3	+	1	459	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	115					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GCTCAGAATTCTCGGGGCGGC	0.522000														29			27		0	0	0.00127121	0	0
FSIP2	401024	broad.mit.edu	37	2	186672961	186672961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:186672961G>A	uc002upl.3	+	16	19195	c.19195G>A	c.(19195-19197)Gaa>Aaa	p.E6399K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCAAATTCAGAATTAGTTCT	0.318000														15			7		0	0	8.12818e-05	0	0
ANO2	57101	broad.mit.edu	37	12	5841763	5841763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:5841763G>A	uc001qnm.2	-	14	1540	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	495						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATTTTCTCTCGAACTTTGGTT	0.453000														22			20		0	0	0.000375601	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646238	19646238	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:19646238C>T	uc002nmt.2	+	4	594	c.522C>T	c.(520-522)ttC>ttT	p.F174F	YJEFN3_uc021uqw.1_Silent_p.F173F|YJEFN3_uc010ecf.2_Silent_p.F124F|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						ACATCCCCTTCCTGAGCTACC	0.642000														9			11		0	0	0.000151284	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935679	47935679	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:47935679C>A	uc010ele.3	-	7	2150	c.2134G>T	c.(2134-2136)Ggg>Tgg	p.G712W	SLC8A2_uc002pgx.3_Missense_Mutation_p.G712W|SLC8A2_uc010xyq.2_Missense_Mutation_p.G468W|SLC8A2_uc010xyr.2_Missense_Mutation_p.G175W			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	712					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCCGGGACCCGTCCTCCTCC	0.607000														31			19		1.37657e-19	9.91485e-19	0.000229342	1	0
SRRM1	10250	broad.mit.edu	37	1	24975472	24975472	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:24975472C>T	uc001bjm.3	+	3	581	c.357C>T	c.(355-357)atC>atT	p.I119I	SRRM1_uc010oel.2_Silent_p.I119I|SRRM1_uc009vrh.1_Silent_p.I80I|SRRM1_uc009vri.1_Silent_p.I36I|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	119	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGCGGGAATCCCTTCTGCTT	0.403000														86			53		0	0	0.000781405	0	0
HMGCL	3155	broad.mit.edu	37	1	24143197	24143197	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:24143197G>A	uc001bib.3	-	3	360	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	HMGCL_uc010oec.2_Silent_p.L106L|HMGCL_uc001bic.3_Silent_p.L81L|HMGCL_uc009vqs.1_Silent_p.L106L|HMGCL_uc021oii.1_Silent_p.L45L	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	106					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTTGGGGTCAGGACTGGGTAG	0.502000														67			44		0	0	0.000781405	0	0
LGI3	203190	broad.mit.edu	37	8	22011507	22011507	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:22011507G>A	uc003xav.3	-	4	757	c.468C>T	c.(466-468)ttC>ttT	p.F156F	LGI3_uc010ltu.3_Silent_p.F132F	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	156					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAGGGGCCGGAAGATGTCTC	0.577000														57			25		0	0	0.000878237	0	0
HMCN1	83872	broad.mit.edu	37	1	186062349	186062349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:186062349C>T	uc001grq.1	+	64	10200	c.9971C>T	c.(9970-9972)cCc>cTc	p.P3324L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3324	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTACTAATCCCGCTGGAGAA	0.393000														13			13		0	0	0.000151284	0	0
OR5F1	338674	broad.mit.edu	37	11	55761980	55761980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:55761980C>T	uc010riv.2	-	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCGAGATTTCCCAGTACTGT	0.428000														12			9		0	0	0.000274275	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707157	242707157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:242707157G>A	uc002wce.1	+	9	1512	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	D2HGDH_uc010fzq.1_Missense_Mutation_p.E313K|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.E146K	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	447					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGTGACGGCGGAGGCCTTCAG	0.692000														35			12		0	0	0.000219431	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852642	125852642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:125852642C>T	uc011lzh.2	+	20	2740	c.2606C>T	c.(2605-2607)gCa>gTa	p.A869V	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Missense_Mutation_p.A208V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	869					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGCAAGATTGCACTACGGAAG	0.473000														4			19		0	0	0.000295444	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196451	22196451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:22196451C>T	uc003svg.3	-	15	1467	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	RAPGEF5_uc011jyl.1_Missense_Mutation_p.G66E	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	235	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGTCACAGTTCCTCTATGCTG	0.458000														22			17		0	0	0.000229342	0	0
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:70130361C>T	uc002sfw.3	+	4	439	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	133					RNA splicing|mRNA processing	nucleus	nucleic acid binding	p.Q133*(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328000														87			33		0	0	0.00170553	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				72			31		6.84511e-11	4.86694e-10	0.00058488	1	0
TRMT61B	55006	broad.mit.edu	37	2	29092696	29092696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:29092696G>A	uc002rmm.3	-	0	480	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	150							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCCTGAAAGGGTCTCTCTCTG	0.488000														18			18		0	0	0.00152264	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591029	234591029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:234591029C>T	uc002vut.3	+	0	446	c.446C>T	c.(445-447)cCt>cTt	p.P149L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.P149L	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	152					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTCTCGATCCTTTTGATGCC	0.383000														44			68		0	0	0.000781405	0	0
MYH7B	57644	broad.mit.edu	37	20	33578836	33578836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:33578836C>T	uc002xbi.2	+	23	2538	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	699	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGCTACACCAGCTGCGCTG	0.622000														37			16		0	0	0.000958276	0	0
SWT1	54823	broad.mit.edu	37	1	185143988	185143988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:185143988C>T	uc001grg.4	+	4	823	c.709C>T	c.(709-711)Cct>Tct	p.P237S	SWT1_uc001grh.4_Missense_Mutation_p.P237S	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	237								p.I236I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTCAAAATCCCTATAAAATC	0.353000														42			84		0	0	0.000781405	0	0
IL1B	3553	broad.mit.edu	37	2	113587996	113587996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:113587996C>T	uc002tii.1	-	6	839	c.752G>A	c.(751-753)gGa>gAa	p.G251E	IL1B_uc002tih.1_Missense_Mutation_p.G220E	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	251					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTTGGTCCCTCCCAGGAAGAC	0.478000														39			54		0	0	0.000781405	0	0
SVIL	6840	broad.mit.edu	37	10	29775148	29775148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:29775148G>A	uc001iut.1	-	25	5398	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.P463S|SVIL_uc001iuu.1_Missense_Mutation_p.P1123S|SVIL_uc009xlc.2_Missense_Mutation_p.P341S	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1549	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTCTTTTGGGTCTCCAGCA	0.393000														8			28		0	0	0.00178596	0	0
GTPBP2	54676	broad.mit.edu	37	6	43590398	43590399	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:43590398_43590399CC>TT	uc003ovs.3	-	9	1475_1476	c.1438_1439GG>AA	c.(1438-1440)ggg>AAg	p.G480K	GTPBP2_uc010jyv.3_Missense_Mutation_p.G392K	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	480							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTCAAAGTCCCCAAGCGCCAGT	0.594000														69			56		0	0	6.4e-05	0	0
ZNF135	7694	broad.mit.edu	37	19	58578659	58578659	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58578659C>T	uc002qrg.3	+	3	882	c.879C>T	c.(877-879)ccC>ccT	p.P293P	ZNF135_uc002qre.3_Silent_p.P269P|ZNF135_uc002qrf.3_Silent_p.P227P|ZNF135_uc010yhq.2_Silent_p.P281P|ZNF135_uc010yhr.2_Silent_p.P90P|ZNF135_uc002qrd.2_Silent_p.P281P|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	281					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGGAGAAACCCTATAAATGCA	0.493000														28			15		0	0	0.000308642	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36748872	36748872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:36748872G>A	uc010tei.2	-	11	1322	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.A259V	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	336					regulation of transcription, DNA-dependent	nucleus											GGCCATAACGGCTGGAGAGAT	0.363000														33			36		0	0	0.00170553	0	0
ABHD4	63874	broad.mit.edu	37	14	23072902	23072902	+	Silent	SNP	A	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:23072902A>C	uc001wgm.3	+	3	627	c.558A>C	c.(556-558)gcA>gcC	p.A186A	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Silent_p.A186A|ABHD4_uc010tnb.2_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	186					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AGATCCGTGCACCCCCAGCCT	0.552000														28			16		0	0	0.000958276	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563958	58563958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58563958G>A	uc002qrc.1	+	4	813	c.566G>A	c.(565-567)aGg>aAg	p.R189K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	189					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGCACACCAGGGCGGAGGCC	0.617000														29			20		0	0	0.00152264	0	0
PDE2A	5138	broad.mit.edu	37	11	72297142	72297142	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:72297142T>G	uc010rrc.2	-	13	1400	c.1154A>C	c.(1153-1155)aAg>aCg	p.K385T	PDE2A_uc001oso.3_Missense_Mutation_p.K364T|PDE2A_uc010rra.2_Missense_Mutation_p.K378T|PDE2A_uc001osn.3_Missense_Mutation_p.K129T|PDE2A_uc010rrb.2_Missense_Mutation_p.K376T|PDE2A_uc010rrd.2_Missense_Mutation_p.K270T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	385					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTTCTGTTCCTTCTGGAAGGC	0.597000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			46		0	0	0.000781405	0	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:144998070C>T	uc003zaf.1	-	30	6608	c.6438G>A	c.(6436-6438)gaG>gaA	p.E2146E	PLEC_uc003zab.1_Silent_p.E2009E|PLEC_uc003zac.1_Silent_p.E2013E|PLEC_uc003zad.2_Silent_p.E2009E|PLEC_uc003zae.1_Silent_p.E1977E|PLEC_uc003zag.1_Silent_p.E1987E|PLEC_uc003zah.2_Silent_p.E1995E|PLEC_uc003zaj.2_Silent_p.E2036E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2146D(4)|p.E2009D(2)|p.E2036D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000														10			16		0	0	0.000229342	0	0
EVC2	132884	broad.mit.edu	37	4	5690978	5690978	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:5690978G>A	uc003gij.3	-	4	666	c.612C>T	c.(610-612)ctC>ctT	p.L204L	EVC2_uc003gik.3_Silent_p.L124L|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	204						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGTCCAGCAAGAGCAGCTCCG	0.527000														30			36		0	0	0.000491102	0	0
E2F7	144455	broad.mit.edu	37	12	77421669	77421669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:77421669G>A	uc001sym.4	-	10	2370	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	E2F7_uc009zse.3_Missense_Mutation_p.P199S	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	712					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTACCTGCAGGAGACTGCACA	0.413000														29			9		0	0	0.000978159	0	0
AK302879	0	broad.mit.edu	37	15	76071784	76071784	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:76071784C>T	uc010umm.1	+	2	296	c.219C>T	c.(217-219)atC>atT	p.I73I	DNM1P35_uc021sqp.1_Intron					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CCGCAATAATCAATCAACTCA	0.502000														6			8		0	0	0.000274275	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600331	41600331	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41600331C>T	uc002opt.3	+	6	1164	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	385					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ATTTCTTCCTCCCTAAGGTGC	0.552000														17			9		0	0	0.000274275	0	0
RNF10	9921	broad.mit.edu	37	12	121004729	121004729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:121004729G>A	uc001typ.4	+	12	2470	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.G574S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	663					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCACCGAGGGCCATGGGGC	0.498000														28			26		0	0	0.000720815	0	0
PEX11A	8800	broad.mit.edu	37	15	90226924	90226924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:90226924G>A	uc002boi.3	-	2	523	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	143					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CATCTGCAGGGAGATTTCATA	0.493000														91			37		0	0	0.00058488	0	0
PTPN2	5771	broad.mit.edu	37	18	12802114	12802114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:12802114G>A	uc002krp.3	-	7	1089	c.895C>T	c.(895-897)Cct>Tct	p.P299S	PTPN2_uc002krn.3_Missense_Mutation_p.P322S|PTPN2_uc002krl.3_Missense_Mutation_p.P299S|PTPN2_uc002krm.3_Missense_Mutation_p.P299S	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	299					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TCAAAGGCAGGAGATAAGTCT	0.328000														29			22		0	0	0.000586117	0	0
BACE2	25825	broad.mit.edu	37	21	42613747	42613747	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:42613747C>T	uc002yyw.3	+	4	1082	c.619_splice	c.e4-1	p.P207_splice	BACE2_uc002yyx.3_Splice_Site_p.P207_splice|BACE2_uc002yyy.3_Splice_Site_p.P207_splice	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	207					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTCCCGCAGCCATCAAGTTCT	0.577000														34			49		0	0	0.000781405	0	0
MUC2	4583	broad.mit.edu	37	11	1097747	1097747	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1097747C>T	uc001lsx.1	+	37	6855	c.6828C>T	c.(6826-6828)tcC>tcT	p.S2276S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4642						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGATCGTCTCCAACTGTGAGG	0.642000														13			15		0	0	0.000308642	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948321	119948321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:119948321G>A	uc010inb.3	+	2	993	c.797G>A	c.(796-798)aGa>aAa	p.R266K	SYNPO2_uc010ina.3_Missense_Mutation_p.R266K|SYNPO2_uc003icm.4_Missense_Mutation_p.R266K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.R194K	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	266				SSGR -> IRHE (in Ref. 5; CAB51856).		Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGTGGCAGAGAGTTGAGA	0.512000														14			6		0	0	0.000157383	0	0
HECW2	57520	broad.mit.edu	37	2	197086952	197086952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:197086952C>T	uc002utm.1	-	23	4312	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K	HECW2_uc002utl.1_Missense_Mutation_p.E1021K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1377	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AATACTTCTTCGTTCACAGTG	0.453000														25			12		0	0	0.000308642	0	0
COL15A1	1306	broad.mit.edu	37	9	101748303	101748303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:101748303C>T	uc004azb.1	+	2	763	c.557C>T	c.(556-558)cCc>cTc	p.P186L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	186	TSP N-terminal.				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)				AGCCGCATCCCCTTCCAGCGG	0.572000														8			41		0	0	0.00128727	0	0
FUBP1	8880	broad.mit.edu	37	1	78430359	78430359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:78430359G>A	uc001dii.3	-	9	898	c.809C>T	c.(808-810)tCa>tTa	p.S270L	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.S291L	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	270					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCTATTCTTGACCCATACTC	0.343000			"""F, N"""		oligodendroglioma									50			31		0	0	0.00058488	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43804764C>T	uc002xng.3	+	1	366	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000														13			28		0	0	0.000339439	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687075	31687076	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:31687075_31687076AC>TT	uc003nwh.3	-	2	230_231	c.175_176GT>AA	c.(175-177)gtt>AAt	p.V59N	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	59	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						ATTGGAGAAAACCCACATCTTA	0.589000														79			78		0	0	6.4e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000														14			31		0	0	0.000509022	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014915	183014915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:183014915G>A	uc003fli.1	-	11	1436	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	MCF2L2_uc003flj.1_Missense_Mutation_p.S449F|MCF2L2_uc011bqr.1_Intron|BC013229_uc003fln.1_Non-coding_Transcript|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	449					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACAGCTTGGGAAGCCAAGAG	0.532000														26			23		0	0	0.00106085	0	0
GON4L	54856	broad.mit.edu	37	1	155732094	155732094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:155732094G>A	uc001flz.2	-	22	4895	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.R1600W|GON4L_uc009wrh.1_Missense_Mutation_p.R1600W|GON4L_uc001fma.1_Missense_Mutation_p.R1600W|GON4L_uc001fmb.4_Missense_Mutation_p.R796W	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1600					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGCCCGAGCCCGACTT	0.542000														11			19		0	0	0.00121646	0	0
LIPI	149998	broad.mit.edu	37	21	15538740	15538740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:15538740C>T	uc002yjm.3	-	4	749	c.739G>A	c.(739-741)Gat>Aat	p.D247N	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.D226N|LIPI_uc021whi.1_Missense_Mutation_p.D61N|LIPI_uc021whj.1_Missense_Mutation_p.D226N|LIPI_uc021whe.1_Missense_Mutation_p.D226N|LIPI_uc021whf.1_Missense_Mutation_p.D226N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	226					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGATAAAAATCTATATGTCCC	0.343000														50			14		0	0	0.000219431	0	0
MCF2	4168	broad.mit.edu	37	X	138680593	138680593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:138680593C>T	uc011mwn.1	-	19	2342	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	MCF2_uc004fav.3_Missense_Mutation_p.R650Q|MCF2_uc004fau.3_Missense_Mutation_p.R634Q|MCF2_uc010nsh.2_Missense_Mutation_p.R634Q|MCF2_uc011mwm.2_Missense_Mutation_p.R595Q|MCF2_uc011mwl.2_Missense_Mutation_p.R611Q|MCF2_uc011mwo.1_Missense_Mutation_p.R710Q|MCF2_uc004faw.2_Missense_Mutation_p.R694Q|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	634	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTAGTGATTCGTTGCACTGG	0.279000														3			11		0	0	0.000422831	0	0
GTF3C3	9330	broad.mit.edu	37	2	197654673	197654673	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:197654673T>A	uc002uts.3	-	4	814	c.657A>T	c.(655-657)gaA>gaT	p.E219D	GTF3C3_uc010zgu.2_Missense_Mutation_p.E219D|GTF3C3_uc002utu.3_Missense_Mutation_p.E219D	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	219						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTCTAACCCATTCTTCTGTGT	0.348000														49			21		0	0	0.000586117	0	0
GPR162	27239	broad.mit.edu	37	12	6948168	6948169	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:6948168_6948169GG>AA	uc001qra.1	+	14	1941_1942	c.1907_1908GG>AA	c.(1906-1908)cgg>cAA	p.R636Q	GPR162_uc001qrb.1_Missense_Mutation_p.R444Q|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank|GNB3_uc009zfe.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTCCAGGCTCGGGTGCGTCCTC	0.658000														19			12		0	0	6.4e-05	0	0
IRAK3	11213	broad.mit.edu	37	12	66641485	66641485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:66641485C>T	uc001sth.3	+	11	1427	c.1325C>T	c.(1324-1326)aCt>aTt	p.T442I	IRAK3_uc010ssy.2_Missense_Mutation_p.T381I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	442	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTTTTAAATACTCTTGAAAGT	0.338000														30			12		0	0	0.000151284	0	0
CASP14	23581	broad.mit.edu	37	19	15164383	15164383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:15164383G>A	uc010dzv.2	+	2	330	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	40					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.E40K(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGATGCTCTGGAACACATGTT	0.542000														33			18		0	0	0.000229342	0	0
KIAA1377	57562	broad.mit.edu	37	11	101849153	101849153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:101849153C>T	uc001pgm.3	+	6	3191	c.2921C>T	c.(2920-2922)cCt>cTt	p.P974L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P930L|KIAA1377_uc010run.2_Missense_Mutation_p.P775L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	974							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGACAAAACCCTGGATCTGTA	0.333000														62			46		0	0	0.000781405	0	0
CD19	930	broad.mit.edu	37	16	28948595	28948595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:28948595C>T	uc010byo.2	+	8	1264	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P401L	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	401					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.P401T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCAGGCCCAGAAGAAGAG	0.622000														7			16		0	0	0.000566183	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:105011256G>A	uc004elz.1	+	10	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000														5			32		0	0	0.00178596	0	0
HMOX2	3163	broad.mit.edu	37	16	4556932	4556932	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:4556932C>T	uc002cwr.4	+	3	430	c.123C>T	c.(121-123)acC>acT	p.T41T	HMOX2_uc010bts.3_Silent_p.T41T|HMOX2_uc002cwq.4_Silent_p.T41T|HMOX2_uc010btt.3_Silent_p.T41T|HMOX2_uc002cwt.3_Silent_p.T41T	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	41					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AGGAAGGGACCAAGGAAGCAC	0.512000											OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			75		0	0	0.000781405	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131193	52131193	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:52131193C>T	uc002pxe.3	-	4	1030	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	297	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTCCAAGATCCCGGTATTGG	0.602000														41			30		0	0	0.000692331	0	0
ADD2	119	broad.mit.edu	37	2	70933406	70933406	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:70933406G>A	uc021vjc.1	-	2	400	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.F45F|ADD2_uc002sgz.3_Silent_p.F45F|ADD2_uc010fdt.2_Silent_p.F45F|ADD2_uc002shc.2_Silent_p.F45F|ADD2_uc010fdu.2_Silent_p.F61F	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	45					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCATCAGGTTGAAGTCCTGCC	0.677000														16			37		0	0	0.00148497	0	0
UTP6	55813	broad.mit.edu	37	17	30202391	30202391	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:30202391C>T	uc002hgr.3	-	13	1250	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	UTP6_uc002hgq.3_Silent_p.L205L	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	389					rRNA processing	nucleolus	binding	p.A388G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTGCCACTTCCAGAGCTTCCC	0.443000														36			27		0	0	0.000491102	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578044	14578044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14578044G>A	uc001rbw.3	+	1	1353	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	ATF7IP_uc010shs.1_Missense_Mutation_p.E399K|ATF7IP_uc001rbu.3_Missense_Mutation_p.E399K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E399K|ATF7IP_uc001rbx.3_Missense_Mutation_p.E399K|ATF7IP_uc010sht.1_Missense_Mutation_p.E399K|ATF7IP_uc001rby.4_Missense_Mutation_p.E399K|ATF7IP_uc001rbz.1_Missense_Mutation_p.E399K|ATF7IP_uc001rca.3_Missense_Mutation_p.E399K|ATF7IP_uc001rcb.3_Missense_Mutation_p.E10K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	399	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGAAAAGAATGAAGATGAAAC	0.333000														36			32		0	0	0.00178596	0	0
CACNG4	27092	broad.mit.edu	37	17	65026607	65026607	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:65026607C>T	uc002jft.2	+	3	519	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	157					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCGGTATCATCGTCTACATTT	0.552000														74			41		0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38936362	38936362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38936362G>A	uc021wvy.1	-	14	2696	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	833					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q833K(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGTGCTAACTGGACTTTAGTT	0.453000														32			17		0	0	0.000422831	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653764	43653764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:43653764C>T	uc001zrk.1	-	4	2213	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R569Q|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R299Q|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCGTGCACTCCGACTGAAGCT	0.433000														21			18		0	0	0.000566183	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727054	29727054	+	RNA	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:29727054C>T	uc003tag.3	+	1		c.872C>T			DPY19L2P3_uc003tai.3_Intron|LOC646762_uc003tad.4_5'Flank					Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 2, non-coding RNA.																		TGTAAACATTCATAAACATTT	0.294000														48			45		0	0	0.000781405	0	0
ANKRD6	22881	broad.mit.edu	37	6	90305674	90305674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:90305674C>T	uc003pni.4	+	2	501	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	ANKRD6_uc003pne.4_Missense_Mutation_p.H54Y|ANKRD6_uc003pnf.4_Missense_Mutation_p.H54Y|ANKRD6_uc011dzy.2_Missense_Mutation_p.H54Y|ANKRD6_uc010kcd.3_Missense_Mutation_p.H54Y|LYRM2_uc010kce.2_Intron	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	54							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAATAAGGGCCATCTTCCTGT	0.512000														13			10		0	0	0.00136819	0	0
KCNB1	3745	broad.mit.edu	37	20	47990378	47990378	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:47990378G>A	uc002xur.1	-	1	1885	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	KCNB1_uc002xus.1_Silent_p.P573P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	573					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTGCGAGTGGGCAGAGGGG	0.512000														61			24		0	0	0.000586117	0	0
PNMA1	9240	broad.mit.edu	37	14	74180022	74180022	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:74180022G>A	uc001xor.1	-	0	1107	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	107					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tagctaggaagaggtgcaatc	0.557000														42			28		0	0	0.000720815	0	0
ACADS	35	broad.mit.edu	37	12	121175679	121175680	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:121175679_121175680GG>AA	uc001tza.4	+	4	630_631	c.512_513GG>AA	c.(511-513)cgg>cAA	p.R171Q	ACADS_uc010szl.1_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	171			R -> W (69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ACCACCGCCCGGGCCGAGGGCG	0.658000														90			50		0	0	6.4e-05	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316153	19316153	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:19316153C>T	uc011kyn.2	-	5	1699	c.635_splice	c.e5-1	p.G212_splice	CSGALNACT1_uc011kyo.2_Splice_Site_p.G212_splice|CSGALNACT1_uc003wzg.3_Splice_Site|CSGALNACT1_uc011kyp.2_Splice_Site_p.G212_splice|CSGALNACT1_uc003wzh.2_Splice_Site	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	212					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.G212V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCGGTAGATCCCTGTTAAGAG	0.403000														61			69		0	0	0.000781405	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881335	111881336	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:111881335_111881336CC>TT	uc002tgv.1	+	1	301_302	c.13_14CC>TT	c.(13-15)cct>TTt	p.P5F	BCL2L11_uc002tgt.1_Missense_Mutation_p.P5F|BCL2L11_uc021vmo.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgu.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgy.2_Missense_Mutation_p.P5F|BCL2L11_uc002thb.2_Missense_Mutation_p.P5F|BCL2L11_uc002tgx.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmp.1_Missense_Mutation_p.P5F|BCL2L11_uc010fkd.2_Missense_Mutation_p.P5F|BCL2L11_uc002tgz.2_Missense_Mutation_p.P5F|BCL2L11_uc002thd.2_Missense_Mutation_p.P5F|BCL2L11_uc002tha.2_Missense_Mutation_p.P5F|BCL2L11_uc010fke.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmq.1_Missense_Mutation_p.P5F|BCL2L11_uc002thc.2_Missense_Mutation_p.P5F|BCL2L11_uc021vmr.1_Missense_Mutation_p.P5F|BCL2L11_uc002tgw.2_Missense_Mutation_p.P5F|BCL2L11_uc021vms.1_Missense_Mutation_p.P5F	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	5					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GGCAAAGCAACCTTCTGATGTA	0.421000														32			31		0	0	6.4e-05	0	0
XKR7	343702	broad.mit.edu	37	20	30584444	30584444	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:30584444C>T	uc002wxe.3	+	2	1098	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	308						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCACCTGTTCAGCATTGCCG	0.642000														19			24		0	0	0.000878237	0	0
STIM2	57620	broad.mit.edu	37	4	27010621	27010621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:27010621C>T	uc003gsg.4	+	9	2014	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	STIM2_uc003gsh.4_Missense_Mutation_p.P504S|STIM2_uc010iex.3_Missense_Mutation_p.P496S|STIM2_uc010iey.3_Missense_Mutation_p.P207S	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	496					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTCACAATTTCCCGGTAAGTG	0.418000														19			12		0	0	0.000151284	0	0
MXRA5	25878	broad.mit.edu	37	X	3235265	3235265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:3235265G>A	uc004crg.4	-	5	6614	c.6457C>T	c.(6457-6459)Ccg>Tcg	p.P2153S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2153	Ig-like C2-type 6.					extracellular region		p.P2153Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTCCGCGGGGAGGTGCCC	0.697000														0			7		0	0	8.12818e-05	0	0
MTCH1	23787	broad.mit.edu	37	6	36937767	36937767	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:36937767G>A	uc003one.4	-	10	1146	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	MTCH1_uc003onc.1_Intron|MTCH1_uc010jwo.1_Intron|MTCH1_uc003ond.1_Intron|MTCH1_uc011dtt.2_Silent_p.I197I	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	0					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCAGCTGAAGGATGTAGCAAA	0.453000														13			4		0	0	0.00024832	0	0
GPR98	84059	broad.mit.edu	37	5	89938839	89938839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:89938839G>A	uc003kju.3	+	12	2630	c.2534G>A	c.(2533-2535)aGa>aAa	p.R845K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	845	Calx-beta 6.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTAGCAAGATTGGATGGG	0.343000														35			20		0	0	0.000229342	0	0
MUC5B	727897	broad.mit.edu	37	11	1273722	1273722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1273722C>T	uc001lta.3	+	31	15072	c.15013C>T	c.(15013-15015)Cct>Tct	p.P5005S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5005					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCCCTGCCCCTGGCTGTGA	0.692000														15			4		0	0	0.00024832	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	A	A	rs76269416		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12942930G>A	uc001aun.2	-	1	357	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGACGAACCCCTAGG	0.622000														32			10		0	0	0.000673444	0	0
ORC3	23595	broad.mit.edu	37	6	88318858	88318858	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:88318858C>T	uc003pmg.3	+	6	726	c.624C>T	c.(622-624)agC>agT	p.S208S	ORC3_uc011dzl.2_Silent_p.S208S|ORC3_uc011dzm.2_Silent_p.S208S|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Silent_p.S208S|ORC3_uc011dzp.2_Silent_p.S65S|ORC3_uc011dzo.2_Silent_p.S65S	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	208					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CTACTTCTAGCCAATGGCAGT	0.393000														43			37		0	0	0.000953801	0	0
GPR158	57512	broad.mit.edu	37	10	25701363	25701363	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:25701363C>T	uc001isj.3	+	3	1356	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	432						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F432F(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTCGACTTCGTTAGCATGC	0.478000														13			29		0	0	0.00111076	0	0
FLG2	388698	broad.mit.edu	37	1	152327317	152327317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:152327317C>T	uc001ezw.4	-	2	3018	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	982	Ser-rich.						calcium ion binding|structural molecule activity	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTTTCCTGAGCCTGA	0.498000														76			128		0	0	0.000781405	0	0
CLPS	1208	broad.mit.edu	37	6	35765063	35765063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:35765063C>T	uc003ole.2	-	0	59	c.3G>A	c.(1-3)atG>atA	p.M1I	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.M1I	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	1					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GGATCTTCTCCATGGTGAGTG	0.602000														68			29		0	0	0.00127121	0	0
OR8D2	283160	broad.mit.edu	37	11	124189434	124189434	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:124189434G>A	uc010sah.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGAGAAAATGAAAGCATAAG	0.448000														8			9		0	0	0.000274275	0	0
AOAH	313	broad.mit.edu	37	7	36552758	36552758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:36552758C>T	uc022abu.1	-	22	2346	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGAAGAGTCCTTTGGGCCTG	0.542000														26			16		0	0	0.000308642	0	0
PI3	5266	broad.mit.edu	37	20	43804541	43804541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43804541C>T	uc002xng.3	+	1	143	c.119C>T	c.(118-120)cCa>cTa	p.P40L		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	40	2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GGCCGTGTTCCATTCAATGGA	0.448000														59			26		0	0	0.000491102	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715603	15715603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:15715603G>A	uc002ddr.3	-	11	2833	c.2626C>T	c.(2626-2628)Ctc>Ttc	p.L876F	KIAA0430_uc002ddq.3_Missense_Mutation_p.L710F|KIAA0430_uc010uzv.2_Missense_Mutation_p.L873F|KIAA0430_uc010uzw.2_Missense_Mutation_p.L876F	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	875						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTAAAGAGAGTGATTTGCTG	0.393000														25			25		0	0	0.000339439	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174643	140174643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140174643C>T	uc003lhd.2	+	0	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R32C|PCDHAC2_uc011czy.2_Missense_Mutation_p.R32C	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	45					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCTCCGCTACTCCGT	0.682000														24			12		0	0	0.000978159	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:36538042C>T	uc003aot.3	-	2	453	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000														22			43		0	0	0.000680045	0	0
CCDC63	160762	broad.mit.edu	37	12	111336817	111336817	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:111336817G>A	uc001trv.1	+	9	1425	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	CCDC63_uc010sye.1_Silent_p.L370L|CCDC63_uc001trw.1_Silent_p.L325L	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	410										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGGATCTATTGAAGAACTCAG	0.498000														18			11		0	0	0.000673444	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533616	71533616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:71533616C>T	uc009zrt.1	-	2	298	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TSPAN8_uc001swk.1_Missense_Mutation_p.E46K|TSPAN8_uc001swj.1_Missense_Mutation_p.E46K	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	46					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CCTACATCTTCAGAACCAAAA	0.393000														42			41		0	0	0.000374591	0	0
COBL	23242	broad.mit.edu	37	7	51111375	51111375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:51111375C>T	uc003tps.3	-	8	1467	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	COBL_uc003tpr.4_Missense_Mutation_p.G371R|COBL_uc011kcl.2_Missense_Mutation_p.G371R|COBL_uc010kzc.3_Missense_Mutation_p.G371R|COBL_uc003tpp.4_Missense_Mutation_p.G157R|COBL_uc003tpq.4_Missense_Mutation_p.G312R	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	371										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCCAGACCCCAGGGGCAGG	0.622000														16			16		0	0	0.00074312	0	0
C8orf4	56892	broad.mit.edu	37	8	40011117	40011117	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:40011117C>T	uc003xnq.2	+	0	131	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	22					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GCCCATCCATCCATGGCTACC	0.517000														39			12		0	0	0.000151284	0	0
ZNF135	7694	broad.mit.edu	37	19	58573071	58573071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58573071G>A	uc002qrg.3	+	1	196	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ZNF135_uc021vct.1_Missense_Mutation_p.V65M|ZNF135_uc002qre.3_Missense_Mutation_p.V53M|ZNF135_uc002qrf.3_Missense_Mutation_p.V11M|ZNF135_uc010yhq.2_Missense_Mutation_p.V53M|ZNF135_uc010yhr.2_Intron|ZNF135_uc002qrd.2_Missense_Mutation_p.V65M|ZNF135_uc021vcu.1_Missense_Mutation_p.V65M	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCTGGTCTCTGTGGGTAAGGC	0.512000														61			42		0	0	0.000781405	0	0
GABPB2	126626	broad.mit.edu	37	1	151076051	151076051	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:151076051C>T	uc001ewr.2	+	5	967	c.636C>T	c.(634-636)gcC>gcT	p.A212A	GABPB2_uc010pcp.1_Silent_p.A228A|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	212					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ACCCCCATGCCTCAACAGTAC	0.443000														33			51		0	0	0.000781405	0	0
MLL	4297	broad.mit.edu	37	11	118373601	118373601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:118373601C>T	uc001pta.3	+	26	7008	c.6985C>T	c.(6985-6987)Cct>Tct	p.P2329S	MLL_uc001ptb.3_Missense_Mutation_p.P2332S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2329					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCCTGGAATTCCTAAACTGGC	0.453000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									40			22		0	0	0.000720815	0	0
TBC1D19	55296	broad.mit.edu	37	4	26744181	26744181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:26744181C>T	uc003gsf.4	+	17	1549	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	TBC1D19_uc010iew.3_Missense_Mutation_p.P427S|TBC1D19_uc011bxu.2_Missense_Mutation_p.P362S	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	427	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTTATCTTCCCCAACTCTT	0.333000														70			31		0	0	0.00058488	0	0
SGSM1	129049	broad.mit.edu	37	22	25301148	25301148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:25301148G>A	uc003abg.2	+	21	3134	c.2977G>A	c.(2977-2979)Gat>Aat	p.D993N	SGSM1_uc010guu.1_Missense_Mutation_p.D938N|SGSM1_uc003abh.2_Missense_Mutation_p.D932N|SGSM1_uc003abj.2_Missense_Mutation_p.D877N|SGSM1_uc003abi.1_Missense_Mutation_p.D913N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	993	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGTCATTCTGGATGATGGTGA	0.498000														94			36		0	0	0.00170553	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:169656259C>T	uc003fgd.3	+	8	1573	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_uc003fge.3_Missense_Mutation_p.P436S|SAMD7_uc011bpo.2_Missense_Mutation_p.P337S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000														16			6		0	0	0.00116845	0	0
FAT2	2196	broad.mit.edu	37	5	150908755	150908755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:150908755C>T	uc003lue.4	-	13	10023	c.10010G>A	c.(10009-10011)gGt>gAt	p.G3337D	FAT2_uc003lud.4_Missense_Mutation_p.G30D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3337	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V3336L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGACGTCACCCACAAGGGC	0.517000														28			19		0	0	0.00152264	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035254	184035255	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:184035254_184035255CC>TT	uc003fnp.3	+	4	564_565	c.293_294CC>TT	c.(292-294)gcc>gTT	p.A98V	EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnq.3_Missense_Mutation_p.A11V|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.A58V|EIF4G1_uc010hxz.2_Missense_Mutation_p.A11V|EIF4G1_uc003fnv.4_Missense_Mutation_p.A98V|EIF4G1_uc003fnw.3_Missense_Mutation_p.A105V|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	98					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTACCCAGCCTCCCAGGGGG	0.614000														29			29		0	0	6.4e-05	0	0
UBR2	23304	broad.mit.edu	37	6	42613219	42613219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:42613219C>T	uc011dur.2	+	20	2598	c.2300C>T	c.(2299-2301)cCt>cTt	p.P767L	UBR2_uc011dus.2_Missense_Mutation_p.P412L|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	767					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGATTTAGTCCTGGAGTTGGA	0.343000														47			28		0	0	0.00127121	0	0
CCDC64	92558	broad.mit.edu	37	12	120499591	120499591	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:120499591C>T	uc001txl.1	+	2	748	c.723C>T	c.(721-723)acC>acT	p.T241T	CCDC64_uc001txk.2_Silent_p.T241T|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_5'Flank	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	241					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCATCAACCAACCAGCACA	0.532000														16			7		0	0	8.12818e-05	0	0
PLEC	5339	broad.mit.edu	37	8	144998603	144998604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:144998603_144998604CC>TT	uc003zaf.1	-	30	6074_6075	c.5904_5905GG>AA	c.(5902-5907)gcggag>gcAAag	p.E1969K	PLEC_uc003zab.1_Missense_Mutation_p.E1832K|PLEC_uc003zac.1_Missense_Mutation_p.E1836K|PLEC_uc003zad.2_Missense_Mutation_p.E1832K|PLEC_uc003zae.1_Missense_Mutation_p.E1800K|PLEC_uc003zag.1_Missense_Mutation_p.E1810K|PLEC_uc003zah.2_Missense_Mutation_p.E1818K|PLEC_uc003zaj.2_Missense_Mutation_p.E1859K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1969	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCACCCGCTCCGCCTCGGCCC	0.743000														5			6		0	0	6.4e-05	0	0
RYBP	23429	broad.mit.edu	37	3	72495776	72495776	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:72495776C>A	uc003dpe.3	-	1	1	c.1_splice	c.e1-1	p.R1_splice		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	11					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTTTGGCCTTCCGAGGAGTGG	0.542000														32			4		2.56e-06	1.81353e-05	0.00024832	1	0
GBF1	8729	broad.mit.edu	37	10	104128020	104128020	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:104128020G>A	uc001kux.2	+	21	2979	c.2685G>A	c.(2683-2685)cgG>cgA	p.R895R	GBF1_uc001kuy.2_Silent_p.R895R|GBF1_uc001kuz.2_Silent_p.R896R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	895					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.R895Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCTTGGTTCGGGAGAACTATG	0.517000														12			35		0	0	0.000692331	0	0
TYK2	7297	broad.mit.edu	37	19	10479086	10479086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10479086G>A	uc002moc.4	-	3	580	c.202C>T	c.(202-204)Cct>Tct	p.P68S	TYK2_uc010dxe.3_Intron|TYK2_uc002mod.2_Missense_Mutation_p.P68S	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	68	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGCAAGGAGGAGTGATACCT	0.547000														36			15		0	0	0.000308642	0	0
CPNE9	151835	broad.mit.edu	37	3	9760195	9760195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:9760195G>A	uc021wst.1	+	16	1321	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	CPNE9_uc003bsd.3_Missense_Mutation_p.E383K	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	384	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGCGGGCATCGAGGGTGTGCT	0.552000														23			29		0	0	0.001512	0	0
SLIT3	6586	broad.mit.edu	37	5	168233537	168233537	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:168233537G>A	uc010jjg.3	-	8	1269	c.849C>T	c.(847-849)ccC>ccT	p.P283P	SLIT3_uc003mab.3_Silent_p.P283P|SLIT3_uc010jji.2_Silent_p.P283P|SLIT3_uc003mac.1_Silent_p.P80P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	283	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCACGTGCAGGGCGAAGGGC	0.567000														20			17		0	0	0.00121646	0	0
UBR5	51366	broad.mit.edu	37	8	103279190	103279190	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:103279190G>A	uc003ykr.2	-	51	7862	c.7407C>T	c.(7405-7407)tcC>tcT	p.S2469S	UBR5_uc003yks.2_Silent_p.S2469S|UBR5_uc003ykq.3_5'UTR	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2469	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTTTTCTGAGGAGTCTACTA	0.358000														157			62		0	0	0.000781405	0	0
EPHA10	284656	broad.mit.edu	37	1	38230662	38230662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:38230662C>T	uc009vvi.3	-	0	163	c.77G>A	c.(76-78)gGa>gAa	p.G26E	EPHA10_uc001cbw.4_Missense_Mutation_p.G26E	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	26						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)				CCGCCAGGGTCCCAAAAGCAG	0.652000														8			5		0	0	0.00116845	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:177142371C>T	uc003iuq.2	-	4	719	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_uc003iup.2_Missense_Mutation_p.G149E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	202					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)		GAGAGGAGTTCCCAAATGAGG	0.403000														27			23		0	0	0.000375601	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228369	95228369	+	RNA	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:95228369C>T	uc001tdk.2	+	0		c.196C>T								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		AGGCACAGATCAAAGGCCTGA	0.542000														8			11		0	0	0.000673444	0	0
HARS	3035	broad.mit.edu	37	5	140056385	140056385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140056385C>T	uc003lgv.3	-	9	1130	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	HARS_uc003lgu.3_Missense_Mutation_p.E281K|HARS_uc011czm.2_Missense_Mutation_p.E310K|HARS_uc003lgw.3_Missense_Mutation_p.E330K|HARS_uc011czn.2_Missense_Mutation_p.E290K|HARS_uc011czo.2_Missense_Mutation_p.E276K|HARS_uc011czp.2_Missense_Mutation_p.E236K|HARS_uc011czq.2_Missense_Mutation_p.E240K	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	350					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CCCAGGGGCTCTTCCCCTGCC	0.607000														32			15		0	0	0.00074312	0	0
PTEN	5728	broad.mit.edu	37	10	89717741	89717741	+	Nonsense_Mutation	SNP	G	T	T	rs121909228		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:89717741G>T	uc001kfb.3	+	6	1798	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	256	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.E256K(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252_K263>AKE(2)|p.E256*(2)|p.V255A(1)|p.V255G(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.K254fs*39(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATCAAAGTAGAGTTCTTCCA	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				11			10		0.000978159	0.00682949	0.000978159	1	0
EPHA5	2044	broad.mit.edu	37	4	66467820	66467820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:66467820G>A	uc003hcy.3	-	2	642	c.449C>T	c.(448-450)aCc>aTc	p.T150I	EPHA5_uc003hcx.3_Missense_Mutation_p.T81I|EPHA5_uc003hcz.3_Missense_Mutation_p.T150I|EPHA5_uc011cah.2_Missense_Mutation_p.T150I|EPHA5_uc011cai.2_Missense_Mutation_p.T150I|EPHA5_uc003hda.2_Missense_Mutation_p.T150I	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	150					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATATTAAAGGTTTCCTTACA	0.418000										TSP Lung(17;0.13)				18			14		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9077155	9077155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:9077155C>T	uc002mkp.3	-	2	10495	c.10291G>A	c.(10291-10293)Gat>Aat	p.D3431N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3432	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						GATGTCTGATCTGACCAAGAA	0.453000														33			27		0	0	0.001512	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519570	113519570	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:113519570A>C	uc010ljy.1	-	3	1608	c.1577T>G	c.(1576-1578)gTt>gGt	p.V526G		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	526					glycogen metabolic process	integral to membrane		p.G525D(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTTCATTAACACCTAAATA	0.353000														1			6		0	0	0.00116845	0	0
SPINK5	11005	broad.mit.edu	37	5	147475428	147475428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:147475428G>A	uc003lox.2	+	9	915	c.842G>A	c.(841-843)gGa>gAa	p.G281E	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.G253E|SPINK5_uc010jgr.2_Missense_Mutation_p.G262E|SPINK5_uc003low.2_Missense_Mutation_p.G281E|SPINK5_uc003loy.2_Missense_Mutation_p.G281E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	281	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.L280fs*15(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAATTTGGGAAAAGCTGAA	0.363000														14			13		0	0	0.00074312	0	0
ASPA	443	broad.mit.edu	37	17	3397658	3397658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:3397658C>T	uc010ckg.3	+	5	740	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.P217S	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	217					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGAATTTCCTCCCTGCGCCAT	0.428000														125			87		0	0	0.000781405	0	0
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:219289047C>T	uc002vib.3	+	1	145	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F41F|VIL1_uc002vic.1_Silent_p.F41F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592000														80			35		0	0	0.000509022	0	0
AHNAK	79026	broad.mit.edu	37	11	62288300	62288300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:62288300C>T	uc001ntl.3	-	4	13889	c.13589G>A	c.(13588-13590)gGa>gAa	p.G4530E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4530					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATCTTAGGTCCTTTCAAATT	0.433000														26			31		0	0	0.000692331	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518636	41518636	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41518636A>G	uc002opr.1	+	7	1217	c.1210A>G	c.(1210-1212)Aaa>Gaa	p.K404E	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.K204E	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	404					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTACTTTGAAAAACCAGACGC	0.473000														46			34		0	0	0.00111076	0	0
CYYR1	116159	broad.mit.edu	37	21	27840879	27840879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:27840879G>A	uc002yme.3	-	3	731	c.409C>T	c.(409-411)Cca>Tca	p.P137S	CYYR1_uc002ymd.3_Missense_Mutation_p.P136S|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	136						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGACCCTGTGGGGTGGGGGAG	0.537000														17			16		0	0	0.000958276	0	0
KIF2B	84643	broad.mit.edu	37	17	51901099	51901099	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:51901099C>T	uc002iua.2	+	0	861	c.705C>T	c.(703-705)atC>atT	p.I235I	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	235	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGGATATCATCACCGTCC	0.552000														15			18		0	0	0.00074312	0	0
FAM155A	728215	broad.mit.edu	37	13	107822874	107822874	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:107822874G>A	uc001vql.3	-	2	1864	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	450						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTTCTTCCAGCGTGTTGATG	0.517000														30			24		0	0	0.00127121	0	0
NETO1	81832	broad.mit.edu	37	18	70526090	70526090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:70526090C>T	uc002lkw.3	-	3	724	c.440G>A	c.(439-441)gGa>gAa	p.G147E	NETO1_uc002lky.2_Missense_Mutation_p.G147E|NETO1_uc002lkz.3_Missense_Mutation_p.G146E	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	147	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCTGAAAATCCCATAGATTC	0.328000														22			17		0	0	0.000958276	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805609	102805609	+	Silent	SNP	C	T	T	rs111747917	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:102805609C>T	uc002tbs.3	+	2	258	c.132C>T	c.(130-132)ttC>ttT	p.F44F	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	44	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ATTGTACATTCCCTCCCATAA	0.368000														24			47		0	0	0.000781405	0	0
CNGB3	54714	broad.mit.edu	37	8	87588076	87588076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:87588076C>T	uc003ydx.3	-	17	2434	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	CNGB3_uc010maj.3_Missense_Mutation_p.E653K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	796					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAACCTCTTCTCCGCCCTCA	0.423000														27			29		0	0	0.000692331	0	0
POU6F2	11281	broad.mit.edu	37	7	39243858	39243858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:39243858C>T	uc003thb.2	+	3	358	c.215C>T	c.(214-216)tCa>tTa	p.S72L	POU6F2_uc022acb.1_Missense_Mutation_p.S72L|POU6F2_uc010kxo.3_Missense_Mutation_p.S64L	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	72					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCATTATCAGACCCAGGC	0.493000														11			13		0	0	0.000219431	0	0
ABCA13	154664	broad.mit.edu	37	7	48269475	48269475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:48269475C>T	uc003toq.2	+	6	710	c.686C>T	c.(685-687)tCc>tTc	p.S229F	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	229					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTTTTTCCCAGGTTTCT	0.408000														107			127		0	0	0.000781405	0	0
ATG9A	79065	broad.mit.edu	37	2	220088413	220088413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220088413G>A	uc002vke.1	-	9	1679	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.A498V	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	498					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTCCAGGGCCCGTGGGCG	0.537000														21			24		0	0	0.00047179	0	0
HTT	3064	broad.mit.edu	37	4	3129048	3129048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:3129048C>T	uc021xkv.1	+	11	1605	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	487					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTTCCACTCCAGGGTCAGCA	0.522000														13			9		0	0	0.000274275	0	0
DLEC1	9940	broad.mit.edu	37	3	38135151	38135151	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38135151G>A	uc003chp.1	+	11	1833	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	DLEC1_uc003cho.1_Silent_p.Q604Q|DLEC1_uc010hgv.1_Silent_p.Q604Q|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	604					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAAAAAGCCAGCCAGACCCTG	0.473000														34			50		0	0	0.000781405	0	0
TBL3	10607	broad.mit.edu	37	16	2027165	2027165	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:2027165C>T	uc002cnu.1	+	14	1653	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.F403F|TBL3_uc010bsc.1_Silent_p.F384F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	517					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGGGTGTCTTCTCAGGCCACC	0.662000														17			18		0	0	0.00074312	0	0
EFHC1	114327	broad.mit.edu	37	6	52344579	52344580	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:52344579_52344580CA>AC	uc003pap.4	+	8	1849_1850	c.1634_1635CA>AC	c.(1633-1635)gca>gAC	p.A545D	EFHC1_uc011dwv.1_Missense_Mutation_p.A454D|EFHC1_uc011dww.2_Missense_Mutation_p.A526D	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	545						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GCTCCAGAAGCAGAAAGGTGTG	0.426000														21			13		0	0	6.4e-05	0	0
TLE6	79816	broad.mit.edu	37	19	2991913	2991913	+	Silent	SNP	G	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:2991913G>T	uc002lwt.2	+	13	1426	c.1317G>T	c.(1315-1317)ccG>ccT	p.P439P	TLE6_uc002lwu.2_Silent_p.P316P	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGGTCCGGATGCCTGTC	0.582000														26			4		0.00116845	0.00809969	0.00116845	1	0
ELSPBP1	64100	broad.mit.edu	37	19	48523108	48523108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:48523108G>A	uc002pht.3	+	4	666	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	163	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATAAGGATGGAAAGTGGAGT	0.483000														11			10		0	0	0.000978159	0	0
NUP205	23165	broad.mit.edu	37	7	135292009	135292009	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:135292009C>A	uc003vsw.3	+	21	3116	c.3085C>A	c.(3085-3087)Cct>Act	p.P1029T		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1029					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTAGGTTGCCCTCGGACATG	0.438000														41			5		0.000442599	0.0031014	0.000442599	1	0
CYLD	1540	broad.mit.edu	37	16	50813599	50813599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:50813599C>T	uc021tib.1	+	6	1285	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	CYLD_uc002ego.3_Missense_Mutation_p.L385F|CYLD_uc010cbs.1_Missense_Mutation_p.L385F|CYLD_uc002egp.1_Missense_Mutation_p.L385F|CYLD_uc002egq.1_Missense_Mutation_p.L385F|CYLD_uc002egr.1_Missense_Mutation_p.L385F|CYLD_uc002egs.1_Missense_Mutation_p.L385F	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	388	Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAAAATCTCTTACAGAGAT	0.373000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					34			15		0	0	0.000422831	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228681	57228681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:57228681C>T	uc010lyk.1	-	1	864	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	SDR16C5_uc003xsy.1_Missense_Mutation_p.G76R|SDR16C5_uc010lyl.1_Missense_Mutation_p.G76R	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCCTCATTCCCCTCCTTATTG	0.517000														68			34		0	0	0.000814825	0	0
FKBP9	11328	broad.mit.edu	37	7	33014933	33014933	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:33014933G>A	uc011kal.2	+	3	847	c.666G>A	c.(664-666)gtG>gtA	p.V222V	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Silent_p.V169V|FKBP9_uc010kwm.3_Silent_p.V76V	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	169	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGATTTTGTGAGGTACCACT	0.473000														45			10		0	0	0.000978159	0	0
FAM5B	57795	broad.mit.edu	37	1	177226357	177226357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:177226357G>A	uc001glf.3	+	3	818	c.506G>A	c.(505-507)aGa>aAa	p.R169K	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.R64K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	169						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAACTGGGAAGAAAGACAGAG	0.542000														55			16		0	0	0.000958276	0	0
AEBP1	165	broad.mit.edu	37	7	44152505	44152505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:44152505G>A	uc003tkb.3	+	17	2871	c.2566G>A	c.(2566-2568)Ggg>Agg	p.G856R	AEBP1_uc003tkc.4_Missense_Mutation_p.G431R|AEBP1_uc003tkd.3_Missense_Mutation_p.G106R	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	856	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCGGACCGGGAGTGAGTC	0.662000														70			57		0	0	0.000781405	0	0
MUC5B	727897	broad.mit.edu	37	11	1269208	1269208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1269208G>A	uc001lta.3	+	30	11157	c.11098G>A	c.(11098-11100)Gcc>Acc	p.A3700T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3700	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.652000														54			66		0	0	0.000781405	0	0
GNAQ	2776	broad.mit.edu	37	9	80646121	80646121	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:80646121G>A	uc004akw.3	-	0	99	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	11					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TCCTCGCTCAGGCAGCACGCC	0.682000			Mis		uveal melanoma									8			15		0	0	0.000566183	0	0
UBTF	7343	broad.mit.edu	37	17	42284846	42284846	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:42284846C>T	uc010czs.3	-	19	2441	c.2145G>A	c.(2143-2145)gaG>gaA	p.E715E	UBTF_uc002igc.3_Silent_p.E678E|UBTF_uc002igd.3_Silent_p.E678E|UBTF_uc010czt.3_Silent_p.E715E	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	715	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCTCTCGTCCTCGCTGCTGG	0.597000														11			9		0	0	0.000219431	0	0
WDR47	22911	broad.mit.edu	37	1	109553968	109553968	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:109553968C>A	uc001dwl.3	-	4	1097	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	WDR47_uc001dwi.3_Missense_Mutation_p.G234C|WDR47_uc001dwj.3_Missense_Mutation_p.G234C|WDR47_uc001dwk.2_Missense_Mutation_p.G206C|WDR47_uc010ovf.2_Missense_Mutation_p.G161C	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	234										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CAACCATTACCACATAAGAGG	0.388000														443			12		3.45872e-05	0.000243682	0.000422831	1	0
CDCA2	157313	broad.mit.edu	37	8	25340955	25340955	+	Missense_Mutation	SNP	C	T	T	rs144887977		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:25340955C>T	uc003xep.1	+	8	1550	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.P358L|CDCA2_uc003xeq.1_Missense_Mutation_p.P343L|CDCA2_uc003xer.1_Missense_Mutation_p.P21L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	358					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGGACTCATCCGAGCTTAATC	0.318000														31			49		0	0	0.000781405	0	0
PSMD1	5707	broad.mit.edu	37	2	232018339	232018339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:232018339C>T	uc002vrn.2	+	18	2339	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	PSMD1_uc002vrm.2_Missense_Mutation_p.A726V|PSMD1_uc010fxu.2_Missense_Mutation_p.A590V	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	726					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.A726A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGTCATGGCCAAGTTTGGC	0.353000														61			33		0	0	0.000374591	0	0
SCN5A	6331	broad.mit.edu	37	3	38645454	38645454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38645454C>T	uc021wvo.1	-	10	1691	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	SCN5A_uc021wvk.1_Missense_Mutation_p.E547K|SCN5A_uc021wvl.1_Missense_Mutation_p.E547K|SCN5A_uc021wvm.1_Missense_Mutation_p.E547K|SCN5A_uc021wvn.1_Missense_Mutation_p.E547K|SCN5A_uc021wvp.1_Missense_Mutation_p.E547K|SCN5A_uc021wvq.1_Missense_Mutation_p.E547K|SCN5A_uc021wvr.1_Missense_Mutation_p.E547K|SCN5A_uc021wvs.1_Missense_Mutation_p.E547K|SCN5A_uc021wvt.1_Missense_Mutation_p.E547K|SCN5A_uc021wvu.1_Missense_Mutation_p.E547K|SCN5A_uc021wvv.1_Missense_Mutation_p.E547K|SCN5A_uc021wvj.1_Missense_Mutation_p.E413K|SCN5A_uc021wvi.1_Missense_Mutation_p.E413K|SCN5A_uc021wvw.1_Missense_Mutation_p.E158K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	547					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTGTTTTCATCATCTGCA	0.612000														11			20		0	0	0.00152264	0	0
RTN1	6252	broad.mit.edu	37	14	60194363	60194363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:60194363C>T	uc001xen.1	-	2	1248	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	347					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCCTTTCCCCTGGGATTCT	0.572000														12			10		0	0	0.000151284	0	0
PPM1A	5494	broad.mit.edu	37	14	60756565	60756565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:60756565C>T	uc001xew.4	+	3	1309	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	PPM1A_uc010apn.3_Missense_Mutation_p.H332Y|PPM1A_uc001xey.4_Missense_Mutation_p.H332Y	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	332					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CGACTTAGTCCATGTGATGCG	0.428000														17			11		0	0	0.000308642	0	0
AK094577	0	broad.mit.edu	37	8	145722877	145722877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:145722877C>T	uc003zde.1	-	1	749	c.237G>A	c.(235-237)tgG>tgA	p.W79*	PPP1R16A_uc003zdd.3_Intron|PPP1R16A_uc003zdf.3_Intron					Homo sapiens cDNA FLJ37258 fis, clone BRAMY2010208.																		AGCAGACGGCCCACTCCCTGC	0.642000														10			12		0	0	0.000219431	0	0
SCARB1	949	broad.mit.edu	37	12	125298849	125298850	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:125298849_125298850CC>TT	uc001ugp.3	-	3	781_782	c.528_529GG>AA	c.(526-531)gtgggt>gtAAgt	p.G177S	SCARB1_uc001ugm.4_Missense_Mutation_p.G177S|SCARB1_uc001ugn.4_Missense_Mutation_p.G177S|SCARB1_uc010tbd.2_Missense_Mutation_p.G177S|SCARB1_uc001ugo.4_Missense_Mutation_p.G177S	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	177					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	ATGATCTCACCCACAGTGCGGT	0.520000														30			20		0	0	6.4e-05	0	0
C4B	721	broad.mit.edu	37	6	31997551	31997551	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:31997551C>T	uc011dpd.2	+	28	3936	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	C4B_uc011dpe.2_Silent_p.F1295F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1295					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGGCAGCTTCCAAGGGGGAT	0.642000														19			11		0	0	0.00136819	0	0
ZNF592	9640	broad.mit.edu	37	15	85327175	85327176	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:85327175_85327176GG>AA	uc002bld.3	+	3	1605_1606	c.1269_1270GG>AA	c.(1267-1272)ggggat>ggAAat	p.D424N	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	424					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGATGCCAGGGGATGAGGTGCC	0.594000														11			21		0	0	6.4e-05	0	0
MYO9B	4650	broad.mit.edu	37	19	17283772	17283773	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:17283772_17283773GG>AA	uc010eak.3	+	13	2292	c.2140_splice	c.e13+1	p.G714_splice	MYO9B_uc002nfi.3_Splice_Site_p.G714_splice|MYO9B_uc002nfj.1_Splice_Site_p.G714_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	714	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAAGGCTGCAGGTGGGAGCTGG	0.624000														14			4		0	0	6.4e-05	0	0
PREX2	80243	broad.mit.edu	37	8	68864761	68864761	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:68864761C>T	uc003xxv.1	+	0	159	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PREX2_uc003xxu.1_Silent_p.F44F|PREX2_uc011lez.1_Silent_p.F44F|PREX2_uc003xxt.3_Silent_p.F44F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	44	DH.				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						CGCTGGAGTTCCTGGTGTCGG	0.706000														6			4		0	0	0.000602214	0	0
MAGI3	260425	broad.mit.edu	37	1	114196509	114196509	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:114196509C>A	uc001edk.3	+	14	2679	c.2498C>A	c.(2497-2499)cCc>cAc	p.P833H	MAGI3_uc001edh.3_Missense_Mutation_p.P858H|MAGI3_uc001edi.4_Missense_Mutation_p.P833H|MAGI3_uc010owm.2_Missense_Mutation_p.P858H|MAGI3_uc001edj.3_Missense_Mutation_p.P554H	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	858	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGATCTCCCCGCCTGAAC	0.478000														55			41		1.15183e-24	8.34271e-24	0.000437636	1	0
LRP5L	91355	broad.mit.edu	37	22	25753278	25753279	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:25753278_25753279GG>AA	uc003abs.3	-	1	2846_2847	c.381_382CC>TT	c.(379-384)gccctg>gcTTtg	p.127_128AL>AL	LRP5L_uc011ajz.2_Silent_p.127_128AL>AL|LRP5L_uc010guw.1_Silent_p.127_128AL>AL	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	127										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGCAGGTCCAGGGCCAGGCCGT	0.609000														17			21		0	0	6.4e-05	0	0
BCL6B	255877	broad.mit.edu	37	17	6930825	6930825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:6930825G>A	uc010clt.1	+	8	1389	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	BCL6B_uc002geg.2_Missense_Mutation_p.D443N	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	443						nucleus	zinc ion binding			skin(1)	1						CCCACAGTGCGACCCCTGTGG	0.592000														19			14		0	0	0.000219431	0	0
FOXI1	2299	broad.mit.edu	37	5	169535099	169535099	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:169535099C>T	uc003mai.4	+	1	666	c.621C>T	c.(619-621)ttC>ttT	p.F207F	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	207					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.F207F(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAATGTTCGACAATGGAA	0.468000									Pendred syndrome					21			22		0	0	0.000375601	0	0
AMPD1	270	broad.mit.edu	37	1	115229505	115229505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:115229505G>A	uc001efe.2	-	3	389	c.341C>T	c.(340-342)aCt>aTt	p.T114I	AMPD1_uc001eff.2_Missense_Mutation_p.T110I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	81					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAAATTAACAGTCTTCCGTCC	0.388000														31			18		0	0	0.000375601	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081678	53081678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:53081678G>A	uc002aci.1	-	0	532	c.404C>T	c.(403-405)cCg>cTg	p.P135L		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	135	Poly-His.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		gtggtggtgcgggtggtggtg	0.632000														13			9		0	0	0.000673444	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103358981	103358982	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:103358981_103358982CC>TT	uc011msh.2	+	2	1495_1496	c.179_180CC>TT	c.(178-180)acc>aTT	p.T60I	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	60							nucleic acid binding|zinc ion binding										GGGAAAGAAACCTTTGAAAACT	0.490000														0			5		0	0	6.4e-05	0	0
FXR2	9513	broad.mit.edu	37	17	7496405	7496405	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:7496405G>A	uc002gia.2	-	12	1790	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	475						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTTCCCCTCGGGTTGGGGGAT	0.627000														17			9		0	0	0.000442599	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47628500	47628500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:47628500C>T	uc002xtx.4	+	27	3949	c.3797C>T	c.(3796-3798)tCc>tTc	p.S1266F	ARFGEF2_uc010zyf.2_Missense_Mutation_p.S559F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1266					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCCATCGATTCCTTTCAGGAT	0.478000														95			43		0	0	0.000680045	0	0
OR4M2	390538	broad.mit.edu	37	15	22368705	22368705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:22368705C>T	uc010tzu.2	+	0	228	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		AGGAAATATCCTTATCATTTG	0.408000														82			19		0	0	0.00121646	0	0
PDGFD	80310	broad.mit.edu	37	11	103818392	103818392	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:103818392A>C	uc001phq.3	-	3	943	c.571T>G	c.(571-573)Tca>Gca	p.S191A	PDGFD_uc001php.3_Missense_Mutation_p.S185A	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	191					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTACTTACTGAAATAGAGCTT	0.453000														17			11		0	0	0.00136819	0	0
NUP155	9631	broad.mit.edu	37	5	37341336	37341336	+	Silent	SNP	A	G	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:37341336A>G	uc003jku.1	-	10	1220	c.1102T>C	c.(1102-1104)Tta>Cta	p.L368L	NUP155_uc003jkt.1_Silent_p.L309L|NUP155_uc010iuz.1_Silent_p.L368L	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	368					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTAAAATATAACCTAACACCT	0.413000														7			9		0	0	0.000673444	0	0
HLA-F	3134	broad.mit.edu	37	6	29695792	29695792	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:29695792C>A	uc011dlx.1	+	7	1341	c.1217C>A	c.(1216-1218)tCc>tAc	p.S406Y	HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Intron|HLA-F-AS1_uc011dlz.1_Intron	NM_018950	NP_061823	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 2, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						gagcaattttcccaccagagg	0.483000														49			31		8.4185e-14	6.01876e-13	0.000409698	1	0
THOC5	8563	broad.mit.edu	37	22	29921856	29921856	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:29921856G>A	uc003afr.3	-	12	1481	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	THOC5_uc003afq.3_Silent_p.A43A|THOC5_uc003afs.3_Silent_p.A382A|THOC5_uc003aft.3_Silent_p.A382A|THOC5_uc003afu.3_Silent_p.A382A	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	382					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTCCATGGCAGTTGTCA	0.532000														28			39		0	0	0.000781405	0	0
PLXNB1	5364	broad.mit.edu	37	3	48448229	48448230	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:48448229_48448230CC>TT	uc003csw.2	-	36	6498	c.6228_splice	c.e36+1	p.W2076_splice	PLXNB1_uc003cst.2_Splice_Site_p.W526_splice|PLXNB1_uc003csu.2_Splice_Site_p.W1893_splice|PLXNB1_uc003csx.2_Splice_Site_p.W2076_splice	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	2076					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGCCTTACCCAGGACAGTT	0.594000														3			10		0	0	6.4e-05	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573616	76573616	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:76573616G>A	uc002fex.1	+	19	3369	c.3230_splice	c.e19-1	p.G1077_splice	CNTNAP4_uc002feu.1_Splice_Site_p.G1073_splice|CNTNAP4_uc002fev.1_Splice_Site_p.G938_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G1001_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1074	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCACTCTAGGAAGTTTGCAG	0.323000														21			12		0	0	0.000978159	0	0
CD300A	11314	broad.mit.edu	37	17	72469892	72469892	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:72469892C>T	uc002jkv.3	+	1	579	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	86	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCTCAGCTTCACAGTGACCC	0.532000														22			17		0	0	0.00074312	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309840	178309840	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178309840G>A	uc003mjl.3	+	4	613	c.387G>A	c.(385-387)gaG>gaA	p.E129E	ZNF354B_uc003mjm.3_Silent_p.E129E	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E129D(2)|p.E129Q(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATATGAAGAGAAATTAAAGA	0.328000														18			14		0	0	0.000308642	0	0
CACNA1E	777	broad.mit.edu	37	1	181767811	181767811	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:181767811C>T	uc009wxt.3	+	47	6978	c.6783C>T	c.(6781-6783)ggC>ggT	p.G2261G	CACNA1E_uc001gow.3_Silent_p.G2218G|CACNA1E_uc009wxs.3_Silent_p.G2199G	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2261					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						CTAGCCTGGGCCGTTCCAACA	0.672000														14			5		0	0	0.000602214	0	0
PRSS58	136541	broad.mit.edu	37	7	141955395	141955395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:141955395G>A	uc003vxb.3	-	1	459	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	PRSS58_uc003vxc.4_Missense_Mutation_p.H47Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	47	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.H47H(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAAAGCGGGTGGATCAGGACT	0.498000														3			13		0	0	0.00136819	0	0
HOXC4	3221	broad.mit.edu	37	12	54448812	54448812	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:54448812C>T	uc001seu.3	+	3	1298	c.618C>T	c.(616-618)aaC>aaT	p.N206N	HOXC4_uc001sex.3_Silent_p.N206N	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGTTCCAAAACCGTCGCATGA	0.577000														9			9		0	0	0.000274275	0	0
SPEG	10290	broad.mit.edu	37	2	220355507	220355508	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220355507_220355508GG>AA	uc010fwg.3	+	37	9214_9215	c.9214_9215GG>AA	c.(9214-9216)ggc>AAc	p.G3072N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3072	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCTACAAGGCCTGGACTAC	0.594000														45			16		0	0	6.4e-05	0	0
SPEN	23013	broad.mit.edu	37	1	16255268	16255268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:16255268G>A	uc001axk.1	+	10	2737	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	SPEN_uc010obp.1_Missense_Mutation_p.E804K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	845					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAATGAGCGAGAGCAAAGCCC	0.463000														20			20		0	0	0.000958276	0	0
GRM7	2917	broad.mit.edu	37	3	7620516	7620516	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:7620516C>T	uc003bqm.2	+	7	2197	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I641I|GRM7_uc003bql.2_Silent_p.I641I|GRM7_uc003bqn.1_Silent_p.I224I|GRM7_uc010hch.1_Silent_p.I152I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	641					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTTGCTACATCATCACTTTCC	0.498000														52			25		0	0	0.000339439	0	0
CELA2B	51032	broad.mit.edu	37	1	15813865	15813865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:15813865G>A	uc001awl.3	+	6	750	c.725G>A	c.(724-726)gGt>gAt	p.G242D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	242	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCGGTCCTTGGTTGCAACTAC	0.602000														42			38		0	0	0.000589545	0	0
C18orf34	374864	broad.mit.edu	37	18	30803134	30803134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:30803134C>T	uc010xbr.1	-	16	2010	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	C18orf34_uc010dme.1_Missense_Mutation_p.G137E|C18orf34_uc002kxn.2_Missense_Mutation_p.G623E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.3_Missense_Mutation_p.G623E	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	623										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTTTACTTTTCCCACCTTTCT	0.299000														7			7		0	0	8.12818e-05	0	0
KRT84	3890	broad.mit.edu	37	12	52777531	52777531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:52777531G>A	uc001sah.1	-	1	646	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	200	Coil 1A.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCTTGGAGGAAGCTCCAC	0.512000														16			21		0	0	0.000295444	0	0
FHOD1	29109	broad.mit.edu	37	16	67281244	67281244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:67281244C>T	uc002esl.3	-	0	182	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.3_5'Flank|SLC9A5_uc010cee.3_5'Flank|SLC9A5_uc010vji.2_5'Flank	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	24					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGGTGTCTTCCAGGTACTGC	0.721000														15			5		0	0	0.000602214	0	0
WNT8B	7479	broad.mit.edu	37	10	102222964	102222964	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:102222964C>T	uc001krb.3	+	0	153	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	13					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TCTGTCTTTTCACCTGTGTCC	0.438000														9			19		0	0	0.00047179	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748507	71748507	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:71748507G>A	uc002fax.3	-	0	198	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PHLPP2_uc010cgf.3_Silent_p.L64L|PHLPP2_uc002fay.1_Silent_p.L64L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	64						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCAAAGGACGAGATGTAAGT	0.493000														18			16		0	0	0.000566183	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346549	89346549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:89346549C>T	uc002fmx.1	-	8	6862	c.6401G>A	c.(6400-6402)gGg>gAg	p.G2134E	ANKRD11_uc002fmy.1_Missense_Mutation_p.G2134E|ANKRD11_uc002fnc.1_Missense_Mutation_p.G2134E|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.G2091E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2134	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGAAGGGCCCCAGGTCCAG	0.667000														5			4		0	0	0.00024832	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975148	32975148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:32975148C>T	uc003ocr.3	-	2	629	c.553G>A	c.(553-555)Gac>Aac	p.D185N	HLA-DOA_uc010juj.3_Missense_Mutation_p.D155N|HLA-DOA_uc010jui.3_Missense_Mutation_p.D185N	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	185	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCATAGACGTCCTCGGCTGAG	0.627000														72			49		0	0	0.000781405	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129009	248129009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:248129009G>A	uc010pzd.2	+	0	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGTGGAACTGAAGCCCTTCT	0.443000														144			40		0	0	0.000509022	0	0
SCN7A	6332	broad.mit.edu	37	2	167263091	167263091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:167263091G>A	uc002udu.2	-	24	4178	c.4048C>T	c.(4048-4050)Ctc>Ttc	p.L1350F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1350					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCCGTGAGAGAAGTATCAGT	0.453000														31			8		0	0	0.000274275	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610323	47610323	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:47610323C>T	uc001cqv.1	+	7	1050	c.999C>T	c.(997-999)atC>atT	p.I333I	CYP4A22_uc009vyo.3_Silent_p.I333I|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	333						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCTGGATCCTCTATGCTC	0.592000														19			6		0	0	0.00136819	0	0
APOH	350	broad.mit.edu	37	17	64219848	64219848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:64219848C>T	uc002jfn.4	-	3	442	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	128	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCCTTCCTCAGT	0.458000														39			25		0	0	0.00127121	0	0
GLCE	26035	broad.mit.edu	37	15	69560649	69560649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:69560649C>T	uc002ary.1	+	4	1148	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	307					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAAGTGTGTCCGTGGTTCTA	0.373000														27			17		0	0	0.000566183	0	0
RNF213	57674	broad.mit.edu	37	17	78280188	78280188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:78280188C>T	uc002jyh.2	+	12	2637	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C	RNF213_uc002jyf.3_Missense_Mutation_p.R783C|RNF213_uc021uen.1_Missense_Mutation_p.R783C|RNF213_uc002jyg.1_Missense_Mutation_p.R514C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	783										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCTGGGTCGTTTTCCTGC	0.488000														28			21		0	0	0.000229342	0	0
SMCR7	125170	broad.mit.edu	37	17	18166422	18166422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:18166422C>T	uc010vxq.2	+	2	229	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SMCR7_uc002gsu.3_Missense_Mutation_p.P57L|SMCR7_uc002gst.3_Missense_Mutation_p.P57L	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	57						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GCCACTAGCCCGCGGGATGAG	0.582000														23			12		0	0	0.000566183	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741831	140741831	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140741831C>A	uc003ljs.2	+	0	2129	c.2129C>A	c.(2128-2130)gCa>gAa	p.A710E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A710E|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	712					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)			GTGATTCTGGCAATCTCCCTG	0.582000														40			20		3.8784e-16	2.77797e-15	0.000229342	1	0
AMMECR1L	83607	broad.mit.edu	37	2	128627105	128627105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:128627105C>T	uc002tpl.3	-	5	898	c.647G>A	c.(646-648)gGg>gAg	p.G216E	AMMECR1L_uc002tpm.3_Missense_Mutation_p.G216E	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	216	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATTCGAATCCCATGGACCCC	0.383000														26			20		0	0	0.000229342	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160708726	160708726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:160708726G>A	uc002ubb.4	-	20	2943	c.2869C>T	c.(2869-2871)Cct>Tct	p.P957S	LY75-CD302_uc010fos.3_Missense_Mutation_p.P957S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.P957S	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	957					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTCTGAAAAGGAATCCATTGC	0.378000														18			21		0	0	0.000295444	0	0
ZNF35	7584	broad.mit.edu	37	3	44700466	44700466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:44700466G>A	uc003cnq.3	+	3	832	c.611G>A	c.(610-612)aGc>aAc	p.S204N	ZNF35_uc003cnr.3_Missense_Mutation_p.S44N	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	204	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGAAAATATAGCCTTAATTCT	0.393000														50			74		0	0	0.000781405	0	0
BIRC6	57448	broad.mit.edu	37	2	32800257	32800257	+	Silent	SNP	G	A	A	rs34145838		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:32800257G>A	uc010ezu.3	+	65	13313	c.13179G>A	c.(13177-13179)cgG>cgA	p.R4393R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4393					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACTCTATCGGGCACTGCTGG	0.458000														105			58		0	0	0.000781405	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976240	161976240	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:161976240C>T	uc010pkq.2	-	3	994	c.570G>A	c.(568-570)aaG>aaA	p.K190K	OLFML2B_uc001gbu.3_Silent_p.K190K	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	190										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTTCATTTTCCTTGGTGAGGT	0.418000														29			60		0	0	0.000781405	0	0
MFSD4	148808	broad.mit.edu	37	1	205549978	205549978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:205549978C>T	uc001hcv.4	+	2	705	c.619C>T	c.(619-621)Cca>Tca	p.P207S	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.P152S	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	207					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCAGACGTTCCCAGGGCTGAC	0.622000														15			25		0	0	0.00047179	0	0
IRF3	3661	broad.mit.edu	37	19	50165495	50165495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:50165495G>A	uc002poy.2	-	4	1711	c.692C>T	c.(691-693)tCc>tTc	p.S231F	IRF3_uc021uxp.1_Missense_Mutation_p.S85F|IRF3_uc021uxq.1_Missense_Mutation_p.S85F|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Missense_Mutation_p.S231F|IRF3_uc021uxo.1_Missense_Mutation_p.S196F|IRF3_uc002pou.3_Missense_Mutation_p.S231F|IRF3_uc010end.2_Missense_Mutation_p.S231F|IRF3_uc002poz.1_Missense_Mutation_p.S231F|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	231	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TCCCACTTCGGACCCCACCAG	0.642000														23			17		0	0	0.000422831	0	0
UNC79	57578	broad.mit.edu	37	14	94046521	94046521	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:94046521G>A	uc001ybv.1	+	15	2012	c.1929G>A	c.(1927-1929)acG>acA	p.T643T	UNC79_uc001ybs.1_Silent_p.T643T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	820						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGGAATCACGATGGGTTTAG	0.418000														30			19		0	0	0.000720815	0	0
ZNF695	57116	broad.mit.edu	37	1	247151498	247151499	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:247151498_247151499GG>AA	uc009xgu.3	-	3	503_504	c.318_319CC>TT	c.(316-321)ttccaa>ttTTaa	p.Q107*	ZNF695_uc001ica.3_Non-coding_Transcript|ZNF695_uc001icb.2_Non-coding_Transcript|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Nonsense_Mutation_p.Q107*|ZNF695_uc001iby.3_Intron|ZNF695_uc001icc.3_Nonsense_Mutation_p.Q95*	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCACTTTTTGGAATGAAACTT	0.376000														66			118		0	0	6.4e-05	0	0
SNX1	6642	broad.mit.edu	37	15	64418364	64418364	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:64418364G>A	uc002amv.3	+	5	727	c.597G>A	c.(595-597)gaG>gaA	p.E199E	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Silent_p.E199E|SNX1_uc002amx.3_Silent_p.E134E|SNX1_uc010bgw.3_Silent_p.E101E	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	199	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AGCTTTCCGAGAAGCACTCTC	0.453000														19			18		0	0	0.00074312	0	0
MTMR4	9110	broad.mit.edu	37	17	56572663	56572663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:56572663G>A	uc002iwj.2	-	15	2950	c.2840C>T	c.(2839-2841)cCc>cTc	p.P947L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	947						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAAAGCAGGGCCCTGTGGC	0.567000														19			18		0	0	0.00121646	0	0
RFPL2	10739	broad.mit.edu	37	22	32587083	32587084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:32587083_32587084GG>AA	uc003amg.3	-	4	1748_1749	c.812_813CC>TT	c.(811-813)acc>aTT	p.T271I	RFPL2_uc003ame.3_Missense_Mutation_p.T210I|RFPL2_uc003amf.3_Missense_Mutation_p.T181I|RFPL2_uc003amh.3_Missense_Mutation_p.T181I	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	271	B30.2/SPRY.						zinc ion binding	p.T210T(2)|p.T181T(2)|p.T271T(2)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CAAGCTCTGTGGTCAGCTGGAT	0.584000														17			34		0	0	6.4e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52199275	52199275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:52199275G>A	uc002xwq.4	-	0	433	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	ZNF217_uc010gij.1_Missense_Mutation_p.P23S	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	31					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATCTCCATCGGACTGCCAAGA	0.458000														46			25		0	0	0.000720815	0	0
MBNL1	4154	broad.mit.edu	37	3	152174058	152174058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:152174058C>T	uc003ezm.3	+	6	1807	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	MBNL1_uc003ezh.3_Missense_Mutation_p.P334S|MBNL1_uc003ezi.3_Missense_Mutation_p.P322S|MBNL1_uc003ezj.3_Missense_Mutation_p.P295S|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Silent_p.F270F|MBNL1_uc003ezn.3_Missense_Mutation_p.P266S|MBNL1_uc003ezo.3_Missense_Mutation_p.P254S|MBNL1_uc010hvp.3_Intron	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	340					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCGAAAGTTCCCATGGTGCA	0.483000														10			36		0	0	0.000814825	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934823	113934823	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:113934823G>A	uc001pop.3	+	1	1065	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ZBTB16_uc001poo.1_Silent_p.G267G|ZBTB16_uc001poq.3_Silent_p.G267G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	267					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCTCAGGAGGGATGGGGGACA	0.632000														16			5		0	0	0.00116845	0	0
EXT2	2132	broad.mit.edu	37	11	44193160	44193160	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:44193160G>A	uc001mya.3	+	8	1329	c.1273_splice	c.e8-1	p.A425_splice	EXT2_uc010rfo.2_Splice_Site_p.A420_splice|EXT2_uc009ykt.3_Intron|EXT2_uc001mxz.3_Splice_Site_p.A392_splice	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	392					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTCTTTATAGGCCCGGTGGT	0.438000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					40			32		0	0	0.000692331	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187251	37187251	+	RNA	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:37187251C>T	uc002hrd.1	+	0		c.1093C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GACTACAGCTCCTCCAAAACA	0.488000														3			3		0	0	6.4e-05	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:77912605C>T	uc022bzi.1	-	0	1313	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	438							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						TTTGTGCCAACGGACCCATTC	0.547000														1			11		0	0	0.00136819	0	0
ARMC9	80210	broad.mit.edu	37	2	232137678	232137678	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:232137678C>T	uc002vrq.4	+	13	1333	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	ARMC9_uc002vrp.4_Silent_p.Y407Y|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	407							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GTCGCCTCTACCTTGCCCAGA	0.468000														100			140		0	0	0.000781405	0	0
BBS12	166379	broad.mit.edu	37	4	123664480	123664480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:123664480C>T	uc021xrm.1	+	2	1814	c.1433C>T	c.(1432-1434)cCt>cTt	p.P478L	BBS12_uc003ieu.3_Missense_Mutation_p.P478L|BBS12_uc021xrn.1_Missense_Mutation_p.P478L	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	478					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGAAGCAGCCCTTTGGATGTT	0.473000									Bardet-Biedl syndrome					26			28		0	0	0.001512	0	0
DACT1	51339	broad.mit.edu	37	14	59113370	59113370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:59113370C>T	uc001xdw.3	+	3	2193	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	DACT1_uc010trv.2_Missense_Mutation_p.R396W|DACT1_uc001xdx.3_Missense_Mutation_p.R640W|DACT1_uc010trw.2_Missense_Mutation_p.R396W	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	677					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AACTGACTACCGGCGGTGGAA	0.721000														11			7		0	0	0.000274275	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475705	140475705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140475705C>T	uc003lil.3	+	0	1469	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	PCDHB2_uc003lim.1_Missense_Mutation_p.S105F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGTCTCCGACGTCAAT	0.607000														46			26		0	0	0.00127121	0	0
NEK9	91754	broad.mit.edu	37	14	75587855	75587855	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:75587855G>A	uc001xrl.3	-	2	574	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	140	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTGACGAAGGATTTTGTCAT	0.368000														29			19		0	0	0.000375601	0	0
NLRP11	204801	broad.mit.edu	37	19	56312966	56312966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:56312966C>T	uc010ygf.2	-	6	2854	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	NLRP11_uc002qlz.3_Missense_Mutation_p.E562K|NLRP11_uc002qmb.3_Missense_Mutation_p.E616K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	715							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATGTGGGCTCGTGCAGGATG	0.498000														37			26		0	0	0.000491102	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852639	125852639	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:125852639T>A	uc011lzh.2	+	20	2737	c.2603T>A	c.(2602-2604)aTt>aAt	p.I868N	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Missense_Mutation_p.I207N	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	868					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACCAGCAAGATTGCACTACGG	0.478000														4			21		0	0	0.00047179	0	0
ICAM4	3386	broad.mit.edu	37	19	10398009	10398009	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10398009G>A	uc002mnr.2	+	0	367	c.321G>A	c.(319-321)tgG>tgA	p.W107*	ICAM4_uc002mns.2_Nonsense_Mutation_p.W107*|ICAM4_uc002mnt.2_Nonsense_Mutation_p.W107*|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	107	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGAGGGCCTGGAGCTCCCTCG	0.677000														8			7		0	0	8.12818e-05	0	0
TRAF1	7185	broad.mit.edu	37	9	123667328	123667328	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:123667328G>A	uc004bku.2	-	7	1793	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRAF1_uc011lyg.2_Silent_p.F285F|TRAF1_uc010mvl.2_Silent_p.F407F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	407	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TGCACTTGAGGAACATTGTGT	0.587000														3			37		0	0	0.000374591	0	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:161071386C>T	uc003qtl.3	-	2	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000														11			46		0	0	0.000781405	0	0
BFSP1	631	broad.mit.edu	37	20	17475605	17475605	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:17475605G>T	uc002wpo.3	-	7	1151	c.1112C>A	c.(1111-1113)cCa>cAa	p.P371Q	BFSP1_uc002wpp.3_Missense_Mutation_p.P246Q|BFSP1_uc010zrn.2_Missense_Mutation_p.P232Q|BFSP1_uc010zro.2_Missense_Mutation_p.P232Q	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	371	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTTCTCCTTGGAACATTCTT	0.418000														137			7		0.000442599	0.0031014	0.000442599	1	0
EFCAB6	64800	broad.mit.edu	37	22	43950763	43950764	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:43950763_43950764GG>AA	uc003bdy.2	-	26	3947_3948	c.3633_3634CC>TT	c.(3631-3636)atcctg>atTTtg	p.1211_1212IL>IL	EFCAB6_uc003bdz.2_Silent_p.1059_1060IL>IL|EFCAB6_uc010gzi.2_Silent_p.1059_1060IL>IL|EFCAB6_uc010gzj.1_Silent_p.437_438IL>IL	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1211	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGTCCGTCAGGATTTGGACGC	0.520000														72			22		0	0	6.4e-05	0	0
PCP4L1	654790	broad.mit.edu	37	1	161253506	161253506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:161253506G>A	uc001gad.3	+	1	306	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCCAAGAGGAAAAAGGTGA	0.418000														3			6		0	0	0.000157383	0	0
MUC2	4583	broad.mit.edu	37	11	1097792	1097792	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1097792C>T	uc001lsx.1	+	37	6900	c.6873C>T	c.(6871-6873)tcC>tcT	p.S2291S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4657						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACGACCCCTCCAAGCCACACT	0.657000														10			4		0	0	0.00024832	0	0
COL11A1	1301	broad.mit.edu	37	1	103491421	103491421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:103491421C>T	uc001dum.3	-	5	1186	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	292	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E290V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAAATTTTTCAGATTTGGGG	0.348000														56			44		0	0	0.000680045	0	0
METTL4	64863	broad.mit.edu	37	18	2566903	2566903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:2566903G>A	uc002klh.4	-	1	1093	c.313C>T	c.(313-315)Cat>Tat	p.H105Y		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	105					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CATTCTTTATGAACAGCTGGA	0.328000														37			24		0	0	0.00106085	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926203	111926203	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:111926203C>T	uc001vrs.2	+	10	1429	c.1179C>T	c.(1177-1179)agC>agT	p.S393S	ARHGEF7_uc001vrr.2_Silent_p.S372S|ARHGEF7_uc001vrt.2_Silent_p.S343S|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Silent_p.S215S|ARHGEF7_uc001vrw.4_Silent_p.S215S|ARHGEF7_uc001vrx.4_Silent_p.S215S|ARHGEF7_uc010tjo.2_Silent_p.S290S|ARHGEF7_uc010tjp.1_Silent_p.S137S|ARHGEF7_uc010agn.1_Silent_p.S137S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	393	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCCAGCAGCCCTGGGATTC	0.557000														48			13		0	0	0.000422831	0	0
IGHE	3497	broad.mit.edu	37	14	106067047	106067047	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:106067047C>T	uc001yrw.1	-	3	780	c.768G>A	c.(766-768)gtG>gtA	p.V256V	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.V203V|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GTGCCAGGTCCACCACCAGAC	0.632000														1			15		0	0	0.000308642	0	0
YSK4	80122	broad.mit.edu	37	2	135745452	135745452	+	Silent	SNP	C	T	T	rs144042857		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:135745452C>T	uc002tue.1	-	6	1021	c.990G>A	c.(988-990)ttG>ttA	p.L330L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L217L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.L58L|YSK4_uc002tui.4_Silent_p.L347L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	330							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAAAGACACCAAAGACTGCC	0.398000														29			39		0	0	0.000374591	0	0
RRP7B	91695	broad.mit.edu	37	22	42970745	42970745	+	RNA	SNP	G	A	A	rs137060	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:42970745G>A	uc003bcs.3	-	6		c.837C>T			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																		CGGCTCAGTAGGGTCGGAATT	0.642000														14			4		0	0	0.00024832	0	0
WDR54	84058	broad.mit.edu	37	2	74650500	74650500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:74650500G>A	uc002slb.3	+	3	400	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	114										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGACTCTGGAGATGCCTCCCC	0.562000														27			42		0	0	0.000509022	0	0
TEX14	56155	broad.mit.edu	37	17	56665017	56665017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:56665017C>T	uc010dcz.2	-	16	2849	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	TEX14_uc002iwr.2_Missense_Mutation_p.E905K|TEX14_uc002iws.2_Missense_Mutation_p.E905K|TEX14_uc010dda.2_Missense_Mutation_p.E685K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	911						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAACAGGTTCCACACTCATC	0.413000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			22		0	0	0.000375601	0	0
EPHA6	285220	broad.mit.edu	37	3	97439161	97439161	+	Silent	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:97439161C>T	uc010how.1	+	14	2884	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	EPHA6_uc003drt.3_Silent_p.F339F|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	852						integral to plasma membrane	ATP binding|ephrin receptor activity	p.F853F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACAGAAAATTCTCCTCAGCAA	0.458000														28			31		0	0	0.000339439	0	0
C2orf78	388960	broad.mit.edu	37	2	74042329	74042329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:74042329C>T	uc002sjr.1	+	2	1100	c.979C>T	c.(979-981)Cca>Tca	p.P327S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	327										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAGAGTAACCCATCACCTGA	0.458000														19			27		0	0	0.00178596	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824752	125824752	+	Silent	SNP	G	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:125824752G>A	uc003eim.1	-	21	2660	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.L723L|ALDH1L1_uc003ein.1_Silent_p.L359L	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	824	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.V823L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGAGACAGCACGGCATCC	0.607000														14			20		0	0	0.00152264	0	0
abParts	0	broad.mit.edu	37	14	106552558	106552558	+	RNA	SNP	C	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:106552558C>A	uc021ser.1	-	1994		c.36609G>T								Parts of antibodies, mostly variable regions.																		CCAAGCCTCCCCCAGACTCCA	0.552000														15			11		9.05144e-12	6.44749e-11	0.000151284	1	0
GPR37L1	9283	broad.mit.edu	37	1	202096948	202096948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:202096948C>T	uc001gxj.3	+	1	773	c.710C>T	c.(709-711)cCc>cTc	p.P237L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	237						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						AGCACCCTGCCCAAGGTGAGG	0.632000														23			41		0	0	0.00170553	0	0
HIST2H2BC	337873	broad.mit.edu	37	1	149821913	149821916	+	Frame_Shift_Del	DEL	GGAG	-	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:149821913_149821916delGGAG	uc021oxz.1	-	0	425_428	c.425_428delCTCC	c.(424-429)cctccgfs	p.P142fs	HIST2H2AA3_uc001esx.3_5'Flank|HIST2H3C_uc001esy.3_5'Flank					Homo sapiens histone cluster 2, H2bc (HIST2H2BC), non-coding RNA.																		GGCGACCCGCggagggagggaggg	0.593													---	7	---	---	5	---					
ALMS1	7840	broad.mit.edu	37	2	73613180	73613181	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:73613180_73613181delCC	uc002sje.1	+	0	295_296	c.184_185delCC	c.(184-186)cccfs	p.P62fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.P62fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	62	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTACGGGCCCCAGCATCTG	0.683													---	4	---	---	2	---					
ZNF197	10168	broad.mit.edu	37	3	44685004	44685005	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:44685004_44685005delGT	uc003cnm.3	+	5	2588_2589	c.2382_2383delGT	c.(2380-2385)gagtgtfs	p.E794fs	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	794					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTGTGATGAGTGTGGCAAATG	0.421													---	58	---	---	21	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	6	---	---	3	---					
ATM	472	broad.mit.edu	37	11	108106555	108106556	+	Frame_Shift_Ins	INS	-	GGTTA	GGTTA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:108106555_108106556insGGTTA	uc001pkb.1	+	4	875_876	c.490_491insGGTTA	c.(490-492)tggfs	p.W164fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.W164fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	164					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.Q163*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGCAACAGTGGTTAGGTATG	0.371			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			---	57	---	---	14	---					
BRD7	29117	broad.mit.edu	37	16	50357594	50357595	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:50357594_50357595insA	uc021thx.1	-	11	1506_1507	c.1346_1347insT	c.(1345-1347)ttgfs	p.L449fs	BRD7_uc002ege.2_Frame_Shift_Ins_p.L449fs	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	449					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGCACGTGGCCAAAAACTCATG	0.446													---	22	---	---	17	---					
DDX49	54555	broad.mit.edu	37	19	19039092	19039093	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:19039092_19039093delCT	uc002nkq.2	+	12	1486_1487	c.1419_1420delCT	c.(1417-1422)cactcafs	p.H473fs	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Frame_Shift_Del_p.H366fs|DDX49_uc002nkr.2_Non-coding_Transcript	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	473							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTGGGTCCCACTCAGGCCCAGT	0.658													---	4	---	---	2	---					
