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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DMD	1756	broad.mit.edu	37	X	32380926	32380926	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	uc004dda.1	-	36	5548	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_uc004dcw.2_Silent_p.S424S|DMD_uc004dcx.2_Silent_p.S427S|DMD_uc004dcz.2_Silent_p.S1645S|DMD_uc004dcy.1_Silent_p.S1764S|DMD_uc004ddb.1_Silent_p.S1760S|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1768	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478000													5	150					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821237	5821237	+	Silent	SNP	G	G	C	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	uc010ndi.3	-	5	2057	c.1593C>G	c.(1591-1593)ccC>ccG	p.P531P	NLGN4X_uc004crp.3_Silent_p.P514P|NLGN4X_uc010ndh.3_Silent_p.P494P|NLGN4X_uc004crq.3_Silent_p.P494P|NLGN4X_uc004crr.3_Silent_p.P494P|NLGN4X_uc010ndj.3_Silent_p.P494P	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	494					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.P494P(1)|p.A531T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552000													11	72					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56603077	56603077	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:56603077G>C	uc010wnx.2	-	4	707	c.562C>G	c.(562-564)Cgg>Ggg	p.R188G	SEPT4_uc002iwk.2_Missense_Mutation_p.R26G|SEPT4_uc010wnw.2_Missense_Mutation_p.R26G|SEPT4_uc002iwl.2_Missense_Mutation_p.R26G|SEPT4_uc002iwm.2_Missense_Mutation_p.R173G|SEPT4_uc002iwo.2_Missense_Mutation_p.R154G|SEPT4_uc002iwp.2_Missense_Mutation_p.R154G|SEPT4_uc010wny.2_Missense_Mutation_p.R165G|SEPT4_uc010dcy.2_Missense_Mutation_p.R55G	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	173					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGTTTCCGGTCCCGGTAC	0.522000													8	103					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476439	87476439	+	Splice_Site	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:87476439T>A	uc003uje.3	-	8	833	c.458_splice	c.e8-1	p.F153_splice		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	153					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CTGCACCAACTAATACAAACA	0.303000													6	312					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr5:159680605G>T	uc003lyb.1	-	6	1340	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_uc011dee.1_Missense_Mutation_p.A315D|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	363						nucleus		p.A363D(4)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667000													8	134					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	uc002uhp.1	+	12	1924	c.1721G>C	c.(1720-1722)aGa>aCa	p.R574T	ITGA6_uc010zdy.1_Missense_Mutation_p.R455T|ITGA6_uc002uho.1_Missense_Mutation_p.R574T|ITGA6_uc010fqm.1_Missense_Mutation_p.R220T	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	613					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428000													6	171					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	uc002oin.1	+	3	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_uc002oio.1_Missense_Mutation_p.H183L|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	183								p.H183L(2)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627000													16	66					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	uc003yjr.3	-	12	1367	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_uc011lha.2_Nonsense_Mutation_p.Q201*|SNX31_uc011lhb.2_Nonsense_Mutation_p.Q307*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	406					cell communication|protein transport		phosphatidylinositol binding	p.Q406*(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343000													52	334					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	uc001bcl.3	+	1	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	268					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GAAGGCCAGCCTGACGCTGGG	0.622000													4	105					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	uc001rjd.3	-	11	1598	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_uc010sjt.2_Missense_Mutation_p.Y212F|IPO8_uc001rje.1_5'Flank	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	417					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity	p.Y417F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378000													28	120					0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339511	72339511	+	RNA	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:72339511A>C	uc010lal.1	-	0		c.145T>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACCACTCCATCTTCCTTTT	0.582000													4	55					0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122889072	122889072	+	RNA	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:122889072C>A	uc010rzt.2	+	0		c.799C>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		ACCACTTTCTCCTTCAAGTGC	0.512000													4	111					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	uc001nhs.1	+	0	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393000													7	488					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838930	34838930	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:34838930C>A	uc002nvd.4	+	10	3529	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	890										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCCCTTCCCCGAGTTCTTCA	0.652000													3	87					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36826	36826	+	RNA	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrGL000241.1:36826C>T	uc011mgv.2	-	0		c.50G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CGGCTCAGGACGAGTATGTGA	0.577000													3	17					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	uc001xdw.3	+	3	1765	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	DACT1_uc010trv.2_Missense_Mutation_p.E253G|DACT1_uc001xdx.3_Missense_Mutation_p.E497G|DACT1_uc010trw.2_Missense_Mutation_p.E253G	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	534					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus		p.E534G(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592000													26	161					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	uc003hsm.1	-	1	1616	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GPRIN3_uc021xqb.1_Missense_Mutation_p.G366E	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	366								p.G366E(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582000													34	158					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	uc002usm.2	-	20	2204	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	STAT4_uc002usn.2_Missense_Mutation_p.K630T|STAT4_uc010zgk.1_Missense_Mutation_p.K475T|STAT4_uc002uso.2_Missense_Mutation_p.K630T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	630	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423000													3	128					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	uc003izf.3	-	1	1239	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	FAT1_uc010iso.1_Missense_Mutation_p.K351E	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	351					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.K351E(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458000										HNSCC(5;0.00058)			44	242					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153940643	153940643	+	Silent	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:153940643G>C	uc004fmk.1	-	3	978	c.930C>G	c.(928-930)ccC>ccG	p.P310P	GAB3_uc004fmj.1_Silent_p.P309P|GAB3_uc010nve.1_Silent_p.P310P|GAB3_uc004fml.1_Intron	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	309								p.P309P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					TAGGGGGGCGGGGAGGTGGAG	0.488000													17	164					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596807	39596807	+	Missense_Mutation	SNP	G	G	A	rs150183284	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:39596807G>A	uc002hwq.1	-	0	790	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	123	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.R123H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCAGCTGGCGCACCTTCTCC	0.582000													5	215					0	0	1	0	0
SRRD	402055	broad.mit.edu	37	22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	uc010gve.3	+	2	411	c.404G>C	c.(403-405)gGa>gCa	p.G135A	SRRD_uc003acp.4_Missense_Mutation_p.G128A	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	135					rhythmic process			p.G135E(2)|p.G135A(2)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468000													52	210					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805227	4805227	+	Splice_Site	SNP	C	C	A	rs121909514		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:4805227C>A	uc002fzk.1	-	5	511	c.500_splice	c.e5+1	p.R167_splice	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	167			R -> L (in CMS-ACHRD; significantly reduced AChR expression).		muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CTCTTCCCACCGGAAAATAAG	0.657000													3	87					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	uc002bns.4	-	9	2203	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_uc002bnr.4_Missense_Mutation_p.E641K	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	641					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657000								DNA polymerases (catalytic subunits)					12	194					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	uc001yku.4	-	9	2074	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	HSP90AA1_uc001ykv.4_Missense_Mutation_p.M750I	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	628					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448000													7	394					0	0	1	0	0
SPATA1	100505741	broad.mit.edu	37	1	85014575	85014575	+	Silent	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:85014575A>G	uc021opb.1	+	10	1279	c.1119A>G	c.(1117-1119)aaA>aaG	p.K373K	SPATA1_uc001djy.2_Non-coding_Transcript					RecName: Full=Spermatogenesis-associated protein 1; AltName: Full=Sperm-specific protein SP-2;											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ACTATAAAAAACTGCTCATGC	0.388000													4	150					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124806813	124806813	+	Splice_Site	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	uc001lhb.3	+	8	1107	c.990_splice	c.e8+1	p.Q330_splice	ACADSB_uc010qub.2_Splice_Site_p.Q228_splice	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	330					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTGATTTTCAGGTATGTAAT	0.403000													3	103					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95784668	95784668	+	Silent	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	uc004asz.2	+	13	2082	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_uc004asw.2_Silent_p.A518A|FGD3_uc004asx.2_Silent_p.A518A|FGD3_uc011luc.1_Silent_p.A121A	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	518					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.A518A(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612000													13	103					0	0	1	0	0
RNASE6	6039	broad.mit.edu	37	14	21250158	21250158	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	uc021roo.1	+	0	300	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RNASE6_uc001vye.4_Silent_p.N100N	NM_005615	NP_005606	Q93091	RNAS6_HUMAN	Homo sapiens ribonuclease, RNase A family, k6 (RNASE6), mRNA.	100					RNA catabolic process|defense response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502000													8	286					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	uc001rgk.3	-	13	1845	c.1763T>G	c.(1762-1764)gTt>gGt	p.V588G	CASC1_uc001rgj.3_Missense_Mutation_p.V542G|CASC1_uc001rgm.4_Missense_Mutation_p.V646G|CASC1_uc001rgl.3_Missense_Mutation_p.V582G|CASC1_uc010sje.2_Missense_Mutation_p.V523G|CASC1_uc010sjf.2_Missense_Mutation_p.V470G	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279000													5	140					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396491	220396491	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396491C>T	uc002vlz.3	+	1	1149	c.975C>T	c.(973-975)cgC>cgT	p.R325R	ASIC4_uc010fwi.2_Silent_p.R325R|ASIC4_uc010fwj.2_Silent_p.R325R|ASIC4_uc002vly.2_Silent_p.R325R|ASIC4_uc002vma.3_Silent_p.R325R|ASIC4_uc002vmb.3_5'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	325						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCTATACTCGCTATGGGAAGT	0.632000													7	209					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128399723	128399723	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:128399723C>A	uc002tpa.3	-	5	727	c.561G>T	c.(559-561)ctG>ctT	p.L187L	LIMS2_uc002tov.3_Silent_p.L35L|LIMS2_uc002tow.3_Silent_p.L35L|LIMS2_uc002tox.3_Silent_p.L211L|LIMS2_uc010fmb.3_Silent_p.L97L|LIMS2_uc002toy.3_Silent_p.L182L|LIMS2_uc002toz.3_Silent_p.L182L|LIMS2_uc010yzm.2_Silent_p.L209L|LIMS2_uc002tpb.3_Silent_p.L182L	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	187	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.L211L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CATGGCAGGGCAGGCAGTAGA	0.692000													7	17					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	uc010ick.3	+	12	2091	c.2090C>A	c.(2089-2091)aCa>aAa	p.T697K	FAM193A_uc003gfd.3_Missense_Mutation_p.T497K|FAM193A_uc011bvm.2_Missense_Mutation_p.T519K|FAM193A_uc011bvn.2_Missense_Mutation_p.T497K|FAM193A_uc010icl.3_Missense_Mutation_p.T497K|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.T351K	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328000													5	151					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	uc003vmd.2	+	1	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	FSCN3_uc003vmc.1_Missense_Mutation_p.P128R|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_Missense_Mutation_p.P39R|FSCN3_uc010llc.2_Missense_Mutation_p.P173R	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	173						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.P173R(2)|p.P173S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602000													24	128					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:198571112G>A	uc002uuq.3	+	0	1085	c.983G>A	c.(982-984)gGc>gAc	p.G328D	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(2)|p.G328C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542000													7	387					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	uc003pgw.3	+	1	637	c.293A>C	c.(292-294)aAc>aCc	p.N98T	OOEP_uc003pgv.4_5'Flank|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	98	KH.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333000													3	112					0	0	1	0	0
FU270202	0	broad.mit.edu	37	10	74034535	74034535	+	Splice_Site	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	uc021psu.1	-	1		c.21_splice	c.e1+1		DDIT4_uc001jsx.1_Silent_p.L96L|FU270201_uc021pst.1_5'Flank					THERAPEUTIC USES OF INHIBITORS OF RTP801.									p.L96L(1)									GTGCCAACCTGATGCAGCTGC	0.627000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	371					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	uc001aru.3	-	9	1260	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	410	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.Y410N(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393000													23	139					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77911274	77911274	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	uc021qny.1	+	4	1388	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_uc001oze.2_Silent_p.F100F|USP35_uc001ozc.3_Intron|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_5'UTR|USP35_uc001ozf.3_Silent_p.F75F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	344					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627000													12	82					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8918770	8918770	+	Splice_Site	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:8918770C>T	uc002qzc.2	-	20	2885	c.2703_splice	c.e20+1	p.R901_splice	KIDINS220_uc010yiv.1_Splice_Site_p.R667_splice|KIDINS220_uc002qzd.2_Splice_Site_p.R859_splice|KIDINS220_uc010yiw.1_Splice_Site_p.R902_splice	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	901	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATCTTACCCGTCTATTGAG	0.363000													9	353					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	uc001mxi.3	+	6	908	c.838G>C	c.(838-840)Gat>Cat	p.D280H	TTC17_uc001mxh.3_Missense_Mutation_p.D280H|TTC17_uc010rfj.2_Missense_Mutation_p.D223H|TTC17_uc001mxj.3_Missense_Mutation_p.D50H	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	280							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438000													11	445					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80432076	80432076	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:80432076C>G	uc011kgw.2	-	8	954	c.875G>C	c.(874-876)cGt>cCt	p.R292P	SEMA3C_uc003uhj.3_Missense_Mutation_p.R274P|SEMA3C_uc011kgx.1_Missense_Mutation_p.R126P	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	274	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACAAGGCTACGCAGTCCACC	0.398000													6	151					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160710869	160710869	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:160710869A>T	uc002ubb.4	-	18	2669	c.2595_splice	c.e18+1	p.N865_splice	LY75-CD302_uc010fos.3_Splice_Site_p.N865_splice|LY75-CD302_uc002ubc.4_Splice_Site_p.N865_splice	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	865	C-type lectin 5.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.?(1)									cttttaaattaCATTTGCTAT	0.254000													5	73					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	uc004aiz.1	+	9	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_uc010moz.1_Missense_Mutation_p.D117N|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.D13N|TMC1_uc010mpa.1_Missense_Mutation_p.D13N	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	159	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane		p.D159N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378000													16	87					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	uc003epa.4	+	8	1074	c.832A>T	c.(832-834)Act>Tct	p.T278S	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Missense_Mutation_p.T222S|UBA5_uc003epb.4_Missense_Mutation_p.T222S|UBA5_uc003epc.3_5'Flank	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	278					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294000													4	85					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	uc002mkp.3	-	2	13529	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4444	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						GGGAGGGCTTGTCCAGGACAC	0.493000													13	186					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:45693191G>T	uc001wwf.3	-	10	3058	c.2599C>A	c.(2599-2601)Ccc>Acc	p.P867T		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	867					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CATTCTAAGGGATGCCTATTT	0.383000													8	207					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541390	86541390	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86541390C>T	uc011kha.2	-	14	2352	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E556K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E609K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E475K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	723						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAACTCACCTCATGCCCACAT	0.413000													10	237					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	uc011kha.2	-	15	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_uc003uie.3_Missense_Mutation_p.G587E|KIAA1324L_uc011kgz.2_Missense_Mutation_p.G640E|KIAA1324L_uc003uif.2_Missense_Mutation_p.G506E	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	754						integral to membrane		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398000													21	121					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214315	11214315	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	uc001qzp.1	-	0	579	c.579A>T	c.(577-579)atA>atT	p.I193I	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	193					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.I193I(3)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413000													39	231					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456145	76456145	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:76456145C>A	uc003yaq.3	+	2	347	c.77C>A	c.(76-78)gCa>gAa	p.A26E	HNF4G_uc003yap.1_Missense_Mutation_p.A26E|HNF4G_uc003yar.3_Missense_Mutation_p.A63E	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	26					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A26E(2)|p.A26A(1)|p.G25W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CACTATGGGGCATCCAGCTGT	0.468000													39	179					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192368	66192368	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	uc001ohx.1	+	6	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D	NPAS4_uc010rpc.1_Silent_p.D459D	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	669					transcription, DNA-dependent		DNA binding|signal transducer activity	p.D669D(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607000													46	269					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	uc001tck.3	-	25	3974	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1237					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373000													7	295					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	uc001mhd.1	-	1	86	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_uc021qdj.1_Missense_Mutation_p.S9T	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	Homo sapiens achaete-scute complex homolog 3 (Drosophila) (ASCL3), mRNA.	8					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463000													5	346					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632596	208632596	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:208632596C>G	uc021vvr.1	-	0	868	c.868G>C	c.(868-870)Gtc>Ctc	p.V290L	FZD5_uc002vcj.3_Missense_Mutation_p.V290L	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	290					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding	p.V290L(3)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGGCCCACGACCAGACGCACC	0.622000													4	19					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368648	101368648	+	Missense_Mutation	SNP	C	C	G	rs144445830	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:101368648C>G	uc010svm.1	+	6	1155	c.583C>G	c.(583-585)Cgt>Ggt	p.R195G	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R160G|ANO4_uc001thx.2_Missense_Mutation_p.R195G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	195						chloride channel complex	chloride channel activity	p.R160C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCTGCCCCGCCGTTACAAGTT	0.468000										HNSCC(74;0.22)			5	194					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	uc002nmb.3	-	2	352	c.242G>A	c.(241-243)gGc>gAc	p.G81D	HAPLN4_uc002nmc.3_Missense_Mutation_p.G81D	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	81	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G81D(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GAGCCGGACGCCGTCGTGACC	0.667000													9	49					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	uc010fzc.2	-	2	507	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_uc002vyn.3_Missense_Mutation_p.Y136H|NDUFA10_uc002vyo.2_Missense_Mutation_p.Y136H|NDUFA10_uc002vyp.3_Missense_Mutation_p.Y136H	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	136					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGACTGCTGTACAACCAGGAC	0.498000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	97					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	uc003akh.3	+	11	1508	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_uc003aki.3_Missense_Mutation_p.H209N|LIMK2_uc003akj.3_Missense_Mutation_p.H434N|LIMK2_uc003akk.3_Missense_Mutation_p.H434N|LIMK2_uc011aln.2_Missense_Mutation_p.H372N	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	455	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.H455N(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542000													29	158					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43659292	43659292	+	Nonsense_Mutation	SNP	C	C	T	rs149915695		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:43659292C>T	uc003tih.3	+	3	812	c.661C>T	c.(661-663)Cga>Tga	p.R221*	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	221	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.R221*(3)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGAGCTCCGAGAAATTAT	0.403000													48	388					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121900	62121900	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:62121900G>A	uc002yfe.1	-	5	1127	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGCCCCGCCGGATGTCCTTC	0.647000													13	228					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	uc003taq.3	+	11	1648	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_uc022aba.1_Missense_Mutation_p.K416Q|PLEKHA8_uc003tan.3_Missense_Mutation_p.K416Q	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	416					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	p.K416Q(3)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343000													17	139					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415677	19415677	+	RNA	SNP	A	A	T	rs142136612	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr13:19415677A>T	uc010tcj.1	-	0		c.30433T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AACACACTGCAATAGGCTTAC	0.388000													4	106					0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148405	1148405	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:1148405T>G	uc001adf.3	-	1	947	c.349A>C	c.(349-351)Acc>Ccc	p.T117P	TNFRSF4_uc001ade.3_Missense_Mutation_p.T113P			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	113					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGCTGGGTGCCCGCCCGG	0.692000													6	29					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	uc002api.3	-	11	1961	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_uc002aph.3_Missense_Mutation_p.Q526K|DENND4A_uc002apj.3_Missense_Mutation_p.Q526K|DENND4A_uc010ujj.1_Missense_Mutation_p.Q526K	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303000													3	43					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	uc003yee.3	+	10	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_uc003yef.3_Missense_Mutation_p.S392P	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	529					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313000													7	111					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	uc002ybn.2	+	12	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_uc002ybr.2_Missense_Mutation_p.K670N|CDH4_uc002ybp.2_Missense_Mutation_p.K633N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	707	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCATCAAAGTCAAGGTGT	0.592000													5	199					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	uc002uzh.1	-	10	1114	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_uc002uzi.1_Missense_Mutation_p.E317V|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	317								p.E317V(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279000													11	86					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250584	102250584	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr13:102250584C>T	uc001vpb.3	+	6	1169	c.950C>T	c.(949-951)aCg>aTg	p.T317M	ITGBL1_uc010agb.3_Missense_Mutation_p.T268M|ITGBL1_uc001vpc.4_Missense_Mutation_p.T176M	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	317	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T317M(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTCCTGCACGCTGTCAGCT	0.567000													18	79					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	uc001ojr.3	+	1	1940	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	534						integral to membrane		p.T534P(2)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721000													7	27					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	uc001dyi.3	+	7	916	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM4_uc001dyj.3_Missense_Mutation_p.S201I|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	201	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.S201I(1)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGAAGTCCAGCCGCTTCCTC	0.577000													20	137					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	uc001hly.1	-	4	760	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.G164R|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	164	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438000													4	127					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	uc001xai.3	-	12	2917	c.2687A>G	c.(2686-2688)aAt>aGt	p.N896S	DDHD1_uc001xaj.3_Missense_Mutation_p.N875S|DDHD1_uc001xah.3_Missense_Mutation_p.N868S|DDHD1_uc001xag.3_Missense_Mutation_p.N450S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	896					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388000													25	133					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	uc001pkb.1	+	33	5400	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_uc009yxr.1_Missense_Mutation_p.G1672A|ATM_uc001pke.2_Missense_Mutation_p.G324A|ATM_uc001pkg.1_Missense_Mutation_p.G29A	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1672					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.G1672A(3)		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)		GAGGCTGTTGGAAGCTGCTTG	0.333000			"""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)			30	209					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201573	53201573	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:53201573G>A	uc001saz.3	-	6	1423	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	401						keratin filament	structural molecule activity	p.R475C(4)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCTCTACGCGCTTGCTGTGG	0.557000													18	88					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8013483	8013483	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:8013483C>A	uc002gka.3	-	8	1731	c.1700G>T	c.(1699-1701)tGc>tTc	p.C567F	ALOXE3_uc010cnr.3_Missense_Mutation_p.C411F|ALOXE3_uc010vuo.2_Missense_Mutation_p.C543F|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	411	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAAATGCGTGCACAGAAAGTG	0.637000											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	uc002stc.4	-	13	3196	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	965	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463000													39	252					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101120671	101120671	+	Silent	SNP	G	G	A	rs61735150	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:101120671G>A	uc010qpi.2	+	2	2086	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	CNNM1_uc009xwe.3_Silent_p.T599T|CNNM1_uc001kpp.4_Silent_p.T599T|CNNM1_uc009xwf.3_Silent_p.T599T|CNNM1_uc009xwg.3_5'UTR	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	599					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTTCGGACACGGAGATGCGGG	0.542000													8	237					0	0	1	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783112	22783112	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:22783112C>A	uc001wdq.2	+	1	115	c.108C>A	c.(106-108)ggC>ggA	p.G36G	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		AGCAGACGGGCCAAATAACCG	0.478000													3	74					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	uc002mxl.1	-	1	88	c.29C>T	c.(28-30)tCa>tTa	p.S10L	CC2D1A_uc002mxn.2_5'Flank|CC2D1A_uc002mxo.2_5'Flank|CC2D1A_uc002mxp.2_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	10					multicellular organismal development		protein binding	p.S10L(2)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413000													27	155					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													7	17					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	uc003cfg.1	+	1	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V	CCR4_uc021wuw.1_Missense_Mutation_p.G253V	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	253					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468000													4	112					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10292482	10292482	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	uc001aqx.4	+	1	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_uc001aqv.4_Silent_p.G32G|KIF1B_uc001aqw.4_Silent_p.G32G|KIF1B_uc001aqy.3_Silent_p.G32G|KIF1B_uc001aqz.3_Silent_p.G32G|KIF1B_uc001ara.3_Silent_p.G32G|KIF1B_uc001arb.3_Silent_p.G32G|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	32	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.G32G(3)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458000													6	28					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	uc003pkf.3	+	12	1371	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	413					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	p.L413F(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333000													31	166					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	uc001rjd.3	-	11	1634	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_uc010sjt.2_Missense_Mutation_p.K224M|IPO8_uc001rje.1_5'Flank	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	429					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity	p.K429M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358000													22	134					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	uc001ldd.2	+	2	348	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	62					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493000													3	75					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	uc022axs.1	-	5	1047	c.860A>G	c.(859-861)gAc>gGc	p.D287G	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D201G|RUNX1T1_uc010mam.3_Missense_Mutation_p.D201G|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D191G|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D228G|RUNX1T1_uc022axo.1_Missense_Mutation_p.D228G|RUNX1T1_uc010mao.3_Missense_Mutation_p.D201G|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D239G|RUNX1T1_uc022axp.1_Missense_Mutation_p.D228G|RUNX1T1_uc022axq.1_Missense_Mutation_p.D228G|RUNX1T1_uc022axr.1_Missense_Mutation_p.D228G|RUNX1T1_uc022axt.1_Missense_Mutation_p.D228G|RUNX1T1_uc022axu.1_Missense_Mutation_p.D208G|RUNX1T1_uc022axv.1_Missense_Mutation_p.D228G|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D191G|RUNX1T1_uc003yff.1_Missense_Mutation_p.D191G	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	228					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572000													12	268					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64239269	64239269	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:64239269G>A	uc002lkc.1	-	1	311	c.173C>T	c.(172-174)aCg>aTg	p.T58M	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.T58M|CDH19_uc002lkd.3_Missense_Mutation_p.T58M	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	58	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T58M(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGACTAGTCGTATTCATTTC	0.373000													21	109					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853620	40853620	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	uc002law.3	-	1	1143	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.L240L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	258	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.L258I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353000													4	127					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:41845068G>A	uc010lxb.3	-	3	1158	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_uc010lxc.3_Missense_Mutation_p.P205L|KAT6A_uc003xon.4_Missense_Mutation_p.P205L|KAT6A_uc010lxd.3_Missense_Mutation_p.P205L	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	205					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GATGGGGATTGGTTCAGCAAC	0.378000													13	549					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116457671	116457671	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:116457671C>T	uc001tvw.3	-	5	787	c.732G>A	c.(730-732)ccG>ccA	p.P244P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	244					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.P244P(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAGCACCATCGGGTAGAAAT	0.418000													63	158					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110217413	110217413	+	Silent	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	uc001dyi.3	+	7	926	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM4_uc001dyj.3_Silent_p.L204L|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	204	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.L204L(2)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCGCTTCCTCCCAAGACCTG	0.582000													23	146					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130678772	130678772	+	Splice_Site	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:130678772A>C	uc004bss.3	-	2	202	c.-74_splice	c.e2-1		ST6GALNAC4_uc004bst.3_Intron	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.						glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGAGCCGGGCACCTGCCAAGA	0.617000													7	18					0	0	1	0	0
C10orf99	387695	broad.mit.edu	37	10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	uc001kcu.3	+	0	111	c.57C>G	c.(55-57)atC>atG	p.I19M	BC051760_uc001kct.3_5'Flank	NM_207373	NP_997256	Q6UWK7	CJ099_HUMAN	Homo sapiens chromosome 10 open reading frame 99 (C10orf99), mRNA.	19						extracellular region		p.I19M(2)|p.I19I(2)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547000													25	251					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145541933	145541933	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:145541933C>T	uc003zbv.3	-	6	935	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	223					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	p.A223T(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGCCTTGGCCCTGGCCCTG	0.692000													8	51					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133428223	133428223	+	Silent	SNP	C	C	T	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	uc001ulf.2	-	11	1593	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.P462P|CHFR_uc001ule.2_Silent_p.P491P|CHFR_uc010tbs.1_Silent_p.P502P|CHFR_uc010tbt.1_Silent_p.P411P	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	503					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657000													58	292					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484152	45484152	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	uc001cnd.2	-	13	3760	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	1178							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	243					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302260	209302260	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	uc010zjb.2	+	3	498	c.212_splice	c.e3-2	p.E71_splice	PTH2R_uc002vdb.3_Splice_Site_p.E60_splice	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	60						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTTCTCATTAGAAGGTAATT	0.348000													4	141					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	uc003eqa.4	-	4	927	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.G50A	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	218					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAAAGCCGGTCCAAATACAGA	0.517000													3	73					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	uc002xyg.3	+	8	1019	c.678C>G	c.(676-678)aaC>aaG	p.N226K	MIR5095_uc021wfc.1_Intron|RAE1_uc010gis.1_Missense_Mutation_p.N179K|RAE1_uc010git.1_Missense_Mutation_p.N226K|RAE1_uc002xyi.3_Missense_Mutation_p.N226K	NM_003610	NP_003601	P78406	RAE1L_HUMAN	Homo sapiens RAE1 RNA export 1 homolog (S. pombe) (RAE1), transcript variant 1, mRNA.	226					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	RNA binding|microtubule binding	p.N226K(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408000													24	176					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	uc002wpo.3	-	7	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_uc002wpp.3_Missense_Mutation_p.K322N|BFSP1_uc010zrn.2_Missense_Mutation_p.K308N|BFSP1_uc010zro.2_Missense_Mutation_p.K308N	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	447	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.K447N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527000													35	217					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301603	140301603	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:140301603A>C	uc010lnk.3	-	2	1115	c.595T>G	c.(595-597)Tcc>Gcc	p.S199A	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S199A|DENND2A_uc003vvw.3_Missense_Mutation_p.S199A|DENND2A_uc003vvx.3_Missense_Mutation_p.S199A	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	199										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGAAGGGTGGACCCTGCCTCT	0.632000													12	130					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18237549	18237549	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	uc001rdq.3	-	4	431	c.237G>T	c.(235-237)ggG>ggT	p.G79G		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	79	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.G79W(1)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408000													6	235					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	uc003tcm.2	-	13	1990	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_uc003tcn.1_Missense_Mutation_p.W510S|PDE1C_uc003tco.2_Missense_Mutation_p.W570S|PDE1C_uc003tcr.3_Missense_Mutation_p.W510S|PDE1C_uc003tcs.3_Missense_Mutation_p.W510S	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	510	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.W510S(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CACTTCCGTCCAAGTAGCTTT	0.488000													31	286					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	uc021ssh.1	+	15	3595	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	IL16_uc010blq.1_Missense_Mutation_p.I1119S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.I1207S|IL16_uc002bgg.3_Missense_Mutation_p.I1165S|IL16_uc002bgi.1_Missense_Mutation_p.I555S|IL16_uc002bgj.3_Missense_Mutation_p.I659S|IL16_uc021ssi.1_Missense_Mutation_p.I464S|IL16_uc002bgl.1_Missense_Mutation_p.I464S|IL16_uc010unq.1_Missense_Mutation_p.I464S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547000													8	347					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	uc003tqz.2	-	7	1015	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	300					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353000													5	194					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65502037	65502037	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	uc002aon.2	-	1	238	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	19					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.V19V(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542000													10	83					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:87671632C>T	uc003hpz.3	+	17	3140	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_uc003hpy.3_Missense_Mutation_p.S887L|PTPN13_uc003hqa.3_Missense_Mutation_p.S887L|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	887						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S887L(4)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413000													13	406					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	uc003zlm.3	-	13	3003	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	729					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453000													74	350					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57488129	57488129	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	uc003dit.2	-	9	1345	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_uc003diu.2_Silent_p.V388V	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	388	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V388V(3)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388000													48	224					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55266507	55266507	+	Splice_Site	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:55266507T>C	uc010yfj.2	+	1	36	c.13_splice	c.e1+1	p.G5_splice	KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	12					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGCGTGTGTTGGTGAGTCCT	0.612000													4	41					0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26671662	26671662	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:26671662T>C	uc002rhg.2	+	10	1574	c.1500T>C	c.(1498-1500)tgT>tgC	p.C500C		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	500										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						TGCTCCTGTGTGACGAGTCGG	0.602000													8	269					0	0	1	0	0
GLI4	2738	broad.mit.edu	37	8	144358723	144358723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:144358723C>A	uc003yxx.3	+	3	965	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	294						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGGTGAGAAGCCCTACGCCTG	0.657000													3	21					0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339497	72339497	+	RNA	SNP	T	T	C	rs390732	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:72339497T>C	uc010lal.1	-	0		c.159A>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		TCCTCAGATTTGTCCCACCAC	0.582000													3	64					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	uc010yvt.1	+	12	1389	c.1387G>A	c.(1387-1389)Ggt>Agt	p.G463S	NPAS2_uc002tap.1_Missense_Mutation_p.G398S|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	398					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532000													18	82					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650245	47650245	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	uc010jzj.1	+	5	1951	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	GPR111_uc003oyy.3_Silent_p.K582K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	650					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507000													7	104					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	A	C	rs151151026	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000													3	52					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	uc001juo.3	-	21	4716	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	PPP3CB_uc001juf.3_5'Flank|PPP3CB_uc001jue.3_5'Flank|PPP3CB_uc001jug.3_5'Flank|PPP3CB_uc001juh.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|USP54_uc010qkk.2_Missense_Mutation_p.T702A|USP54_uc001juk.3_Missense_Mutation_p.T655A|USP54_uc001jul.3_Missense_Mutation_p.T608A|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1567					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532000													7	419					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	-	-	rs138237342	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:29475219_29475221delCTT	uc001bro.3	-	5	1559_1561	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													10	329	---	---	---	---					
SRSF11	9295	broad.mit.edu	37	1	70687370	70687371	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:70687370_70687371insG	uc001des.3	+	1	175_176	c.51_52insG	c.(49-54)ggcgggfs	p.G17fs	SRSF11_uc009wbi.3_Frame_Shift_Ins_p.G17fs|SRSF11_uc009wbj.1_Frame_Shift_Ins_p.G17fs|SRSF11_uc010oqo.1_Frame_Shift_Ins_p.G17fs|SRSF11_uc001det.3_Frame_Shift_Ins_p.G17fs|SRSF11_uc001deu.2_Frame_Shift_Ins_p.G17fs	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	17	Poly-Gly.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						GCCCCAGCGGCGGGCCcggtgg	0.649													8	351	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113420507	113420507	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	uc002tib.3	+	10	2484	c.1945delA	c.(1945-1947)aacfs	p.N649fs		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	649					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R648H(1)|p.R648C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478													37	238	---	---	---	---					
GRM7	2917	broad.mit.edu	37	3	7621013	7621013	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:7621013delT	uc003bqm.2	+	7	2694	c.2420delT	c.(2419-2421)attfs	p.I807fs	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_Frame_Shift_Del_p.I807fs|GRM7_uc003bql.2_Frame_Shift_Del_p.I807fs|GRM7_uc003bqn.1_Frame_Shift_Del_p.I390fs|GRM7_uc010hch.1_Frame_Shift_Del_p.I318fs	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	807					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)	TTCATTCCAATTTTTTTTGGC	0.383													11	61	---	---	---	---					
HIST1H2BG	8339	broad.mit.edu	37	6	26216797	26216799	+	In_Frame_Del	DEL	CTT	-	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	uc003ngz.2	-	0	74_76	c.73_75delAAG	c.(73-75)aagdel	p.K25del	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517													9	352	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	308	---	---	---	---					
TRPA1	8989	broad.mit.edu	37	8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	-	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	uc003xza.3	-	25	3274_3280	c.3099_3105delACCAAAT	c.(3097-3105)ataccaaatfs	p.I1033fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	1033						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266													11	109	---	---	---	---					
ANGPT1	284	broad.mit.edu	37	8	108348408	108348408	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:108348408delT	uc003ymn.3	-	2	1013	c.545delA	c.(544-546)aatfs	p.N182fs	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Frame_Shift_Del_p.N182fs	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	182					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAGATTTCATTTGTCTGTTG	0.363													9	115	---	---	---	---					
FAM71D	161142	broad.mit.edu	37	14	67671485	67671486	+	Frame_Shift_Ins	INS	-	T	T	rs66658912	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:67671485_67671486insT	uc001xja.2	+	4	881_882	c.591_592insT	c.(589-594)acagacfs	p.T197fs	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	197										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CGAATAGCACAGACATCACAGG	0.505													37	146	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	G	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:106725714_106725715insG	uc021ser.1	-	925		c.21900_21901insC								Parts of antibodies, mostly variable regions.																		ATCCCAGGGCTGGGCTCCTCTC	0.500													9	142	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													8	17	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801306	7801307	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	uc002gjd.2	+	11	2116_2117	c.2114_2115insT	c.(2113-2115)aatfs	p.N705fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.N646fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.N646fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.N474fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	646					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.E704K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.450													29	203	---	---	---	---					
ZNF264	9422	broad.mit.edu	37	19	57723318	57723326	+	In_Frame_Del	DEL	AAGCCTTAC	-	-	rs149508999	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:57723318_57723326delAAGCCTTAC	uc002qob.3	+	3	1267_1275	c.853_861delAAGCCTTAC	c.(853-861)aagccttacdel	p.KPY285del		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGTGGAGAGAAGCCTTACAAGTGCAATG	0.507													14	144	---	---	---	---					
