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
KIAA0368	23392	broad.mit.edu	37	9	114204657	114204657	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:114204657C>A	uc004bfe.1	-	5	852	c.852G>T	c.(850-852)gtG>gtT	p.V284V	KIAA0368_uc010muc.1_Silent_p.V106V	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGTTTTTCCACTGGTAGGC	0.398000													4	32					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18912515	18912515	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:18912515G>T	uc004cyv.4	-	31	3774	c.3344C>A	c.(3343-3345)cCg>cAg	p.P1115Q	LOC100132163_uc004cyt.3_Non-coding_Transcript|PHKA2_uc010nfe.1_Missense_Mutation_p.P147Q|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1115					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATCTCATGCGGGGTCATCTA	0.577000													4	26					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66432555	66432555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:66432555C>A	uc010dey.3	-	4	587	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	WIPI1_uc010wqo.2_Missense_Mutation_p.G84W	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	166					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACAATCTCCCCTGAAGTCAGG	0.502000											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	102					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1273982	1273982	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:1273982C>A	uc001aer.4	-	11	1231	c.1184G>T	c.(1183-1185)cGg>cTg	p.R395L	DVL1_uc009vka.3_Missense_Mutation_p.R78L|DVL1_uc002quu.3_Missense_Mutation_p.R137L|DVL1_uc001aeu.1_Missense_Mutation_p.R154L	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	420					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		CTGCATGACCCGGACGACGGC	0.652000													4	53					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696072	103696072	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:103696072C>A	uc001tjt.2	-	5	985	c.897G>T	c.(895-897)gcG>gcT	p.A299A	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.A299A|C12orf42_uc001tju.2_Silent_p.A204A	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	299										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGGAGGTGTCCGCCTGAGGCC	0.632000													4	69					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117838732	117838732	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:117838732C>A	uc004bjj.4	-	7	3209	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	TNC_uc010mvf.3_Missense_Mutation_p.G933W|TNC_uc022bmj.1_Missense_Mutation_p.G933W	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	933	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTGGTCCCCTCCAGAGATG	0.522000													7	228					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34009963	34009963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:34009963G>T	uc011kap.2	+	5	799	c.425G>T	c.(424-426)gGg>gTg	p.G142V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAGAGTCTGGGGTGCGCTGT	0.493000													6	153					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514914	67514914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:67514914C>A	uc010vjo.1	-	0	176	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ATP6V0D1_uc002ete.1_Missense_Mutation_p.G26W	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	26					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGAGCACCCCGGCCTTCAGG	0.662000													4	62					0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	uc011abt.2	-	0	234	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	78						plasma membrane	opioid receptor activity|protein binding	p.T78M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617000													4	17					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471282	47471282	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:47471282C>A	uc001rpm.3	-	2	2159	c.1504G>T	c.(1504-1506)Ggg>Tgg	p.G502W	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.G502W|AMIGO2_uc001rpl.3_Missense_Mutation_p.G502W|AMIGO2_uc021qxg.1_Missense_Mutation_p.G502W	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	502					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCAGATTTCCCCCTCGTGGAC	0.458000													4	30					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149907466	149907466	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:149907466C>A	uc003lsk.4	+	2	1116	c.614C>A	c.(613-615)cCg>cAg	p.P205Q	NDST1_uc011dcj.2_Missense_Mutation_p.P205Q|NDST1_uc003lsl.3_Missense_Mutation_p.P205Q	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	205	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAGTCCCCGCTGCTCTAC	0.597000													3	30					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280671	55280671	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55280671G>T	uc001cyb.4	+	7	1063	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	C1orf177_uc001cya.4_Missense_Mutation_p.G337W	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	337										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GACCTCCAAGGGGTCAGGTGC	0.552000													7	186					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3519044	3519044	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:3519044C>A	uc001akl.3	-	1	479	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	84	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCATGACCCACGCACCACG	0.697000													5	42					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151153132	151153132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:151153132C>A	uc011eem.1	+	14	3150	c.3062C>A	c.(3061-3063)cCt>cAt	p.P1021H	PLEKHG1_uc011eel.1_Missense_Mutation_p.P1002H|PLEKHG1_uc003qny.1_Missense_Mutation_p.P962H|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P962H	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	962					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAGAAAACCCTGACCTGGGG	0.488000													8	218					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318703	9318703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:9318703C>A	uc001qvl.3	-	17	2232	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	PZP_uc009zgl.3_Nonsense_Mutation_p.E604*|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Nonsense_Mutation_p.E67*	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGCACCGTTTCAGGGACTGGC	0.438000													5	132					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056217	7056217	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7056217G>T	uc003gjw.4	+	1	850	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TADA2B_uc010idi.3_Silent_p.L158L|TADA2B_uc021xle.1_Silent_p.L141L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAGCCTTCCTGGGGAAGGACA	0.577000													5	99					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105690	160105690	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:160105690C>A	uc001fvc.3	+	16	2478	c.2346C>A	c.(2344-2346)ccC>ccA	p.P782P	ATP1A2_uc001fvb.2_Silent_p.P782P|ATP1A2_uc001fvd.3_Silent_p.P518P	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	782					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAACATCCCCGAGATCACCC	0.557000													5	111					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133311997	133311997	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:133311997C>A	uc001ukx.2	-	8	1762	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.V503V	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	565						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGTACCTTCCCACTCTCTCAA	0.493000													6	124					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	uc010lhz.1	+	3	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_uc003uzj.2_Silent_p.F211F|ORAI2_uc003uzk.2_Silent_p.F211F|ORAI2_uc011kks.1_Silent_p.F134F	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667000													6	36					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21355055	21355055	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:21355055C>A	uc002ztr.1	-	3	288	c.258G>T	c.(256-258)gaG>gaT	p.E86D	THAP7_uc002zts.1_Missense_Mutation_p.E86D|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	86					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGACTGCCCCCTCCTTTAGCC	0.602000													6	125					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31741056	31741056	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:31741056G>T	uc003akq.3	-	0	1194	c.533C>A	c.(532-534)cCt>cAt	p.P178H	PATZ1_uc003akp.3_Missense_Mutation_p.P178H|PATZ1_uc003akr.3_Missense_Mutation_p.P178H|PATZ1_uc003aks.3_Missense_Mutation_p.P178H|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	178					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGAGGTCCCAGGGGGGCGAAA	0.592000													5	122					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	uc002cgu.4	-	5	1349	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_uc002cgv.4_Missense_Mutation_p.N214S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	407					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682000													4	24					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885941	180885941	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:180885941C>A	uc001gok.2	+	1	769	c.702C>A	c.(700-702)ccC>ccA	p.P234P		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	234										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCACATTCCCAGCCCAAGGA	0.577000													7	259					0	0	1	0	0
EIF1AD	84285	broad.mit.edu	37	11	65767617	65767617	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:65767617C>A	uc021qlr.1	-	2	476	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	EIF1AD_uc001ogm.2_Missense_Mutation_p.G35W|EIF1AD_uc021qls.1_Missense_Mutation_p.G35W|EIF1AD_uc021qlt.1_Missense_Mutation_p.G35W|EIF1AD_uc021qlu.1_Missense_Mutation_p.G35W|EIF1AD_uc021qlv.1_Missense_Mutation_p.G35W|EIF1AD_uc001ogn.2_Missense_Mutation_p.G35W|BANF1_uc001ogo.3_5'Flank|BANF1_uc001ogp.3_5'Flank	NM_001242481	NP_001229410	Q8N9N8	EIF1A_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A domain containing (EIF1AD), transcript variant 1, mRNA.	35	S1-like.					nucleus	translation initiation factor activity			lung(5)	5						AGATTGTTCCCTGGGGTCCTG	0.562000													6	78					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821572	72821572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:72821572C>A	uc002fck.3	-	9	11276	c.10603G>T	c.(10603-10605)Gag>Tag	p.E3535*	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Nonsense_Mutation_p.E2621*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3535					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCGCGCTCTCGCACGCCAGG	0.692000													4	87					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363351	137363351	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:137363351C>A	uc003vtt.3	-	2	559	c.558G>T	c.(556-558)tcG>tcT	p.S186S	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	186					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.S186L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGAGGTCTCCCGAGACGTTGG	0.507000													9	267					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075487	1075487	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:1075487C>A	uc003jbu.3	-	15	2033	c.1967_splice	c.e15+1	p.G656_splice		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	656					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCGCTTACCCGCGGTACTCG	0.652000													4	39					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34078501	34078501	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34078501G>T	uc021wco.1	+	20	3272	c.2625G>T	c.(2623-2625)aaG>aaT	p.K875N	CEP250_uc010zve.2_Missense_Mutation_p.K243N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	875	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTGGCAAAGGCTCTGGAGA	0.547000													5	101					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809059	43809059	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr21:43809059C>A	uc002zbb.2	-	3	502	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G101W|TMPRSS3_uc002zbd.3_Missense_Mutation_p.G101W	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	101	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCGTCCTCCCCGTCTTTGCAA	0.537000													4	67					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	711250	711250	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:711250C>A	uc003zgl.1	+	6	1133	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	KANK1_uc003zgm.3_Silent_p.R162R|KANK1_uc003zgn.1_Silent_p.R162R|KANK1_uc003zgo.1_Silent_p.R162R|KANK1_uc003zgp.1_Silent_p.R162R|KANK1_uc003zgq.2_Silent_p.R4R|KANK1_uc003zgr.1_Silent_p.R4R|KANK1_uc003zgs.1_Silent_p.R4R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	162					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGGAGACCCGGAGAAGACT	0.547000													5	79					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	uc003lkl.2	+	0	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.T782T|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507000													18	122					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:158254059G>T	uc003ipm.4	+	6	1430	c.971G>T	c.(970-972)aGg>aTg	p.R324M	GRIA2_uc011cit.2_Missense_Mutation_p.R277M|GRIA2_uc003ipl.4_Missense_Mutation_p.R324M|GRIA2_uc003ipk.4_Missense_Mutation_p.R277M|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	324					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R323R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCTCCCGAAGGGGGAATGCA	0.483000													5	77					0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105361070	105361070	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105361070C>A	uc001yps.3	+	17	4641	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	KIAA0284_uc010axb.3_Silent_p.P1410P|KIAA0284_uc001ypt.3_Silent_p.P148P	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1515						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TCGTGGACCCCAGTGGGAGCC	0.657000													5	76					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554612	85554612	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:85554612G>T	uc021vjw.1	-	1	577	c.243C>A	c.(241-243)ccC>ccA	p.P81P	TGOLN2_uc002spb.3_Silent_p.P81P|TGOLN2_uc002soz.3_Silent_p.P81P|TGOLN2_uc021vjx.1_Silent_p.P81P|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Silent_p.P81P	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	81	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	p.P81P(1)									CCGACTTGTTGGGGGTGTCTT	0.597000													9	422					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72725469	72725469	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:72725469C>A	uc010dfu.3	+	1	617	c.147C>A	c.(145-147)ccC>ccA	p.P49P	RAB37_uc002jlc.2_Silent_p.P49P|RAB37_uc002jld.2_Silent_p.P49P	NM_175738	NP_783865	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.	56					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.P49T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGTTCATCCCCGGCTCCTTCT	0.592000													5	129					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511086	2511086	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:2511086C>A	uc002cqh.3	+	3	497	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	C16orf59_uc002cqg.2_5'UTR|C16orf59_uc002cqi.3_5'UTR|C16orf59_uc010uwb.2_5'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCTGAGCGCCGGCTGCTGTC	0.697000													4	56					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133489392	133489392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:133489392C>A	uc003epu.2	+	18	3391	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	TF_uc011blt.2_Missense_Mutation_p.Q428K|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.Q555K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	555	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGTGAAACACCAGACTGTCCC	0.507000													6	192					0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105350078	105350078	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:105350078C>A	uc001kxh.3	+	5	2084	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Silent_p.P541P	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	558					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTGCTGCCCCATCTGCCGCC	0.627000													5	49					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86368205	86368205	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:86368205G>T	uc004amy.3	-	8	1304	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GKAP1_uc004amz.3_Missense_Mutation_p.Q219K	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	270					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCAGCTTCTGGATTTCAGCA	0.323000													6	103					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295773	7295773	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:7295773C>A	uc001qss.3	+	10	2287	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	CLSTN3_uc001qsr.3_Silent_p.P571P	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	571					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.V583M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACGTGAACCCCTCACAGTCCC	0.622000													6	130					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67022552	67022552	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:67022552G>T	uc002jhu.3	-	15	2250	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	ABCA9_uc010dez.3_Missense_Mutation_p.L703I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	703	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTTCTTAAGGAACAGAGAA	0.428000													8	351					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76168029	76168029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:76168029C>T	uc002jut.3	+	2	803	c.776C>T	c.(775-777)gCg>gTg	p.A259V	SYNGR2_uc002juu.1_3'UTR			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCGGTTAGCGTGGGAAGGG	0.632000													11	75					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59510142	59510142	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:59510142C>A	uc002aga.3	-	9	1427	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	352	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GAGCGCATCCCGGGTGTAACA	0.502000													5	123					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66571471	66571471	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:66571471C>A	uc021qmd.1	+	8	855	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	C11orf80_uc010rpk.2_Missense_Mutation_p.P118Q	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	128										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GACAGTAGACCAAATTTTGGT	0.358000													8	214					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071351	104071351	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:104071351C>A	uc001tjw.3	+	24	2953	c.2767C>A	c.(2767-2769)Cac>Aac	p.H923N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	923	EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGCGGCTGCCACGACAACGC	0.582000													5	120					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444225	62444225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:62444225C>A	uc001nuj.3	-	7	1036	c.904G>T	c.(904-906)Gga>Tga	p.G302*	UBXN1_uc001nul.2_Intron|UBXN1_uc001nuk.3_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.G302V(1)		endometrium(5)|lung(12)	17						CCTCCTTTTCCTAGGCATGCC	0.512000													7	128					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116728637	116728637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:116728637C>A	uc001ppy.3	-	19	3262	c.3226G>T	c.(3226-3228)Ggg>Tgg	p.G1076W	SIK3_uc001ppz.3_Missense_Mutation_p.G915W|SIK3_uc001pqa.3_Missense_Mutation_p.G1016W|SIK3_uc001ppw.3_Missense_Mutation_p.G433W|SIK3_uc001ppx.3_Missense_Mutation_p.G454W|SIK3_uc001pqb.3_Missense_Mutation_p.G379W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1076						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGGGTCCCCAGGTCCACCG	0.498000													5	77					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9828949	9828949	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:9828949G>T	uc003bsx.1	-	4	1188	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	TADA3_uc010hcn.1_Silent_p.R214R|TADA3_uc003bsy.3_Silent_p.R214R|TADA3_uc003bsw.1_Silent_p.R43R	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	214					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GCCGCTGCCCGGGCCCCATCC	0.632000											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	114					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201750	140201750	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140201750C>A	uc003lhl.2	+	0	390	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P130P|PCDHAC2_uc003lhj.1_Silent_p.P130P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	146	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCCGCCCAGGTTCTCCA	0.527000													5	104					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967928	49967928	+	Silent	SNP	C	C	A	rs150696383	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:49967928C>A	uc002pnt.3	+	11	1593	c.1477C>A	c.(1477-1479)Cgg>Agg	p.R493R	ALDH16A1_uc010yar.2_Silent_p.R442R|ALDH16A1_uc010yas.2_Silent_p.R328R|ALDH16A1_uc010yat.2_Silent_p.R330R	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	493							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GACCCCTGCCCGGCTGTCCTG	0.622000													7	204					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41073636	41073636	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:41073636G>T	uc002ony.3	+	30	6490	c.6404G>T	c.(6403-6405)gGg>gTg	p.G2135V	SPTBN4_uc002onz.3_Missense_Mutation_p.G2135V|SPTBN4_uc010egx.3_Missense_Mutation_p.G878V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2135					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGTTCTTTGGGGACCCCACG	0.662000													3	5					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24234605	24234605	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:24234605C>A	uc001uov.2	+	6	916	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	TNFRSF19_uc001uot.3_Missense_Mutation_p.R238S|TNFRSF19_uc010tcu.2_Missense_Mutation_p.R106S|TNFRSF19_uc001uow.3_Missense_Mutation_p.R238S	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	238					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557000													3	20					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	uc003uss.3	-	2	658	c.340A>G	c.(340-342)Aga>Gga	p.R114G	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.R107G|ZNF3_uc010lgj.3_Missense_Mutation_p.R71G|ZNF3_uc003usr.3_Missense_Mutation_p.R107G|ZNF3_uc003ust.4_Missense_Mutation_p.R107G			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	107	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403000													16	81					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880167	42880167	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:42880167G>T	uc002otl.4	+	40	8212	c.7577G>T	c.(7576-7578)cGg>cTg	p.R2526L	MEGF8_uc002otm.4_Missense_Mutation_p.R2134L|MEGF8_uc002otn.4_Missense_Mutation_p.R187L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2593						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGCGGCGTGCGGGACCGGCTG	0.692000													4	98					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300090	18300090	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:18300090G>T	uc002zng.4	-	25	5690	c.5337C>A	c.(5335-5337)ccC>ccA	p.P1779P	MICAL3_uc011agl.2_Silent_p.P1695P|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1779						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCTTACGACGGGAAGCACCC	0.667000													3	14					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5862782	5862782	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:5862782G>A	uc003gis.3	-	2	715	c.626C>T	c.(625-627)gCg>gTg	p.A209V	CRMP1_uc003giq.3_Missense_Mutation_p.A95V|CRMP1_uc003gir.3_Missense_Mutation_p.A90V	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	95					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACCAGTGCCGCCCTGGTCCC	0.582000													12	48					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117279711	117279711	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:117279711C>A	uc001prc.3	+	28	3862	c.3715C>A	c.(3715-3717)Ccg>Acg	p.P1239T	CEP164_uc001prb.3_Missense_Mutation_p.P1242T|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.P672T	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1239					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus		p.P1239Q(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ATCTTTTTCCCCGCCTCACCG	0.562000													5	48					0	0	1	0	0
GPER	2852	broad.mit.edu	37	7	1131448	1131448	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:1131448C>A	uc010ksd.1	+	1	473	c.84C>A	c.(82-84)tcC>tcA	p.S28S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.S28S|GPER_uc003ska.1_Silent_p.S28S|GPER_uc003skb.2_Silent_p.S28S|GPER_uc021zyo.1_Silent_p.S28S	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	28						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACACCACCTCCCCCGAGCTCA	0.672000													5	71					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109753	145109753	+	Missense_Mutation	SNP	C	C	A	rs11777194		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:145109753C>A	uc003zar.3	-	17	2555	c.2473G>T	c.(2473-2475)Ggg>Tgg	p.G825W	OPLAH_uc003zas.1_Missense_Mutation_p.G74W	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	825							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGCTGCCCCCGGCACTGGGA	0.662000													4	66					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984945	7984945	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:7984945C>A	uc001mfv.1	-	0	115	c.98G>T	c.(97-99)cGg>cTg	p.R33L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	33	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTCATATCCCGTAAGTAGAA	0.547000													5	106					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80382311	80382311	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80382311C>A	uc002kev.4	+	2	542	c.126C>A	c.(124-126)ctC>ctA	p.L42L	HEXDC_uc002kew.3_Silent_p.L42L	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	42					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGGCCTCCTCATTGAGTATG	0.582000													5	110					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	uc001hgc.3	+	5	911	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_uc001hgg.3_Missense_Mutation_p.F246I|CD46_uc001hgh.3_Missense_Mutation_p.F246I|CD46_uc001hgi.3_Missense_Mutation_p.F246I|CD46_uc001hgj.3_Missense_Mutation_p.F246I|CD46_uc001hgm.3_Missense_Mutation_p.F246I|CD46_uc001hgl.3_Missense_Mutation_p.F246I|CD46_uc001hgp.3_Missense_Mutation_p.F246I	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	246	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378000													10	45					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	uc021tiu.1	+	47	5649	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.A383V|NLRC5_uc002ekr.1_Missense_Mutation_p.A728V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1841					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567000													12	62					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	uc003mbm.1	-	5	1150	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_uc011dey.1_Missense_Mutation_p.N228S|FBXW11_uc003mbl.1_Missense_Mutation_p.N247S|FBXW11_uc003mbn.1_Missense_Mutation_p.N226S	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	260					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity	p.N260_I262(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348000													7	44					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:145328417A>G	uc021oul.1	+	32	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1422										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458000													3	62					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657647	144657647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:144657647C>A	uc003yyo.4	-	9	1262	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	C8orf73_uc010mff.3_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yym.4_Nonsense_Mutation_p.E413*|NAPRT1_uc003yyn.4_Nonsense_Mutation_p.E413*|NAPRT1_uc011lkh.2_Nonsense_Mutation_p.E413*			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	413					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTCTGCTTCTCGGGGTCCTCG	0.657000													4	111					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	uc010cxx.3	-	3	657	c.300C>A	c.(298-300)gaC>gaA	p.D100E	RAB5C_uc002hyz.3_Missense_Mutation_p.D67E|RAB5C_uc002hza.3_Missense_Mutation_p.D67E	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	67					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577000													12	66					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90078039	90078039	+	RNA	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:90078039C>T	uc010yts.2	+	23		c.2655C>T								Parts of antibodies, mostly variable regions.																		TGTGTTGACGCAGTCTCCAGC	0.502000													24	110					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523567	38523567	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:38523567C>A	uc010ive.1	-	4	847	c.515G>T	c.(514-516)tGg>tTg	p.W172L	LIFR_uc003jli.2_Missense_Mutation_p.W172L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	172					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.W172fs*14(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTAATTTCCCAGATAACATT	0.348000			T	PLAG1	salivary adenoma								5	102					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320978	79320978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:79320978C>A	uc010mpk.3	-	7	6336	c.6212G>T	c.(6211-6213)tGg>tTg	p.W2071L	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.W1893L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2071					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCATCTATCCACAAGTCAGG	0.517000													6	186					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719548	74719548	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:74719548G>T	uc002slt.2	+	10	1160	c.1137G>T	c.(1135-1137)ctG>ctT	p.L379L	TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Silent_p.L233L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	379							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTCCGCCTGGGCAAGGCCT	0.617000													5	92					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	uc002hns.3	+	2	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.S110C	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	110						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458000													6	136					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	uc003nda.2	+	4	1220	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_uc021ymj.1_Missense_Mutation_p.Y167C	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	298	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333000													7	44					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688172	18688172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:18688172C>A	uc003sui.3	+	9	1374	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	HDAC9_uc003sue.3_Missense_Mutation_p.R442S|HDAC9_uc011jyd.2_Missense_Mutation_p.R442S|HDAC9_uc003suh.3_Missense_Mutation_p.R442S|HDAC9_uc003suj.3_Missense_Mutation_p.R401S|HDAC9_uc011jya.2_Missense_Mutation_p.R440S|HDAC9_uc003sua.1_Missense_Mutation_p.R420S|HDAC9_uc003sud.2_Missense_Mutation_p.R442S|HDAC9_uc011jyc.2_Missense_Mutation_p.R401S|HDAC9_uc011jyb.2_Missense_Mutation_p.R398S|HDAC9_uc003suf.2_Missense_Mutation_p.R473S|HDAC9_uc010kud.2_Missense_Mutation_p.R445S|HDAC9_uc011jye.2_Missense_Mutation_p.R414S|HDAC9_uc011jyf.2_Missense_Mutation_p.R365S|HDAC9_uc010kue.1_Missense_Mutation_p.R185S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	442					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAAATTGCCCCGTCACAGACC	0.488000													4	94					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	uc002tpg.2	-	16	3044	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	949					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478000													3	19					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294695	109294695	+	Silent	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:109294695C>T	uc021qqf.1	+	0	336	c.336C>T	c.(334-336)ggC>ggT	p.G112G	C11orf87_uc010rwb.2_Silent_p.G112G	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	112						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCGCGGTGGCGGGGGGCTGC	0.652000													5	86					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204419061	204419061	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:204419061C>A	uc001haw.3	-	13	2630	c.2151G>T	c.(2149-2151)ccG>ccT	p.P717P	PIK3C2B_uc010pqv.2_Silent_p.P717P	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	717					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.P717L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGAGCTCCCCGGTGGGGGGA	0.622000													3	21					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433051	49433051	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:49433051G>T	uc001rta.4	-	32	8320	c.8320C>A	c.(8320-8322)Cgg>Agg	p.R2774R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2774					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGAGGTGGCCGGGAGAGTCGG	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			6	108					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73422321	73422321	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:73422321C>A	uc001xng.3	+	11	1316	c.1096C>A	c.(1096-1098)Cgc>Agc	p.R366S	DCAF4_uc010ttr.2_Missense_Mutation_p.R345S|DCAF4_uc001xnj.3_Missense_Mutation_p.R360S|DCAF4_uc001xnh.3_Missense_Mutation_p.R266S|DCAF4_uc010tts.2_Missense_Mutation_p.R306S|DCAF4_uc010ttt.2_Missense_Mutation_p.R152S|DCAF4_uc001xni.3_Missense_Mutation_p.R196S|DCAF4_uc001xnk.3_Missense_Mutation_p.R366S	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	366						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GAAGGCCACCCGCCTGTTTCA	0.522000													7	278					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89875872	89875872	+	RNA	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:89875872C>A	uc009wcy.1	+	1		c.94C>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		AGGGAACACCCCAGACATGGT	0.438000													5	72					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112237730	112237730	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:112237730G>A	uc001tst.3	+	10	1365	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ALDH2_uc010syi.2_Silent_p.Q376Q	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	423					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CAGTGATGCAGATCCTGAAGT	0.552000			T	HMGA2	leiomyoma								11	28					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825131	26825131	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:26825131C>A	uc001iss.3	+	9	1350	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P	APBB1IP_uc009xks.1_Silent_p.P343P	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	343	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATTATGTACCCAAAGGAAAGA	0.333000													7	183					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88957413	88957413	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:88957413C>A	uc003hre.3	+	2	838	c.751C>A	c.(751-753)Cgg>Agg	p.R251R		NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	251						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.R251R(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTACTACACCCGGATGATGTC	0.478000													5	132					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225971	9225971	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:9225971G>T	uc021uoi.1	-	0	469	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	OR7G1_uc002mks.1_Missense_Mutation_p.L157M	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTCTGAACCAGGGCATCCATA	0.483000													5	110					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308971	74308971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:74308971C>A	uc010wtb.1	-	8	891	c.670G>T	c.(670-672)Gag>Tag	p.E224*	PRPSAP1_uc010wta.1_Nonsense_Mutation_p.E327*	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	298					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGACTCCTCAATCAGGCGA	0.478000													5	118					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	uc010spp.2	+	0	159	c.159C>G	c.(157-159)ctC>ctG	p.L53L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418000													32	141					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121031	29121031	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:29121031C>A	uc003adu.1	-	3	598	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.G176W|CHEK2_uc003adt.1_Missense_Mutation_p.G219W|CHEK2_uc003adv.1_Missense_Mutation_p.G176W|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	176					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTCCTTTCCCTACAAGCTCT	0.338000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	69					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328017	152328017	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:152328017C>A	uc001ezw.4	-	2	2318	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	749	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGTCCA	0.507000													8	413					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000													3	7					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856749	13856749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:13856749C>A	uc010gcf.3	-	11	1121	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SEL1L2_uc002woq.4_Missense_Mutation_p.G208W|SEL1L2_uc010zrl.2_Missense_Mutation_p.G347W|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCAGCATTCCCCTCTAAATAC	0.368000													6	140					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443698	4443698	+	Missense_Mutation	SNP	C	C	A	rs150092179		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:4443698C>A	uc002fxz.4	-	24	3441	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	MYBBP1A_uc002fyb.4_Missense_Mutation_p.G1127C|MYBBP1A_uc002fya.4_Missense_Mutation_p.G72C|MYBBP1A_uc010vsa.2_Missense_Mutation_p.G169C	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1127					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGCTGGAGCCGGTGGAGTGT	0.642000													4	42					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156236360	156236360	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:156236360G>T	uc001foc.4	-	10	1376	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	409					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.P409P(2)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATGCCGGGACGGGATTCTCGC	0.562000													4	53					0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28971310	28971310	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:28971310G>T	uc001iuj.1	+	2	1166	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	255					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGTGGGCACGGGAAGCTGGA	0.483000													5	72					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	uc002ipg.3	-	3	602	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_uc010dbk.3_Missense_Mutation_p.F102C|SPOP_uc002ipb.3_Missense_Mutation_p.F102C|SPOP_uc002ipc.3_Missense_Mutation_p.F102C|SPOP_uc002ipd.3_Missense_Mutation_p.F102C|SPOP_uc002ipe.3_Missense_Mutation_p.F102C|SPOP_uc002ipf.3_Missense_Mutation_p.F102C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408000										Prostate(2;0.17)			15	79					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433744	1433744	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:1433744C>A	uc002wfc.3	-	5	1447	c.579G>T	c.(577-579)ctG>ctT	p.L193L	NSFL1C_uc021vzq.1_Silent_p.L79L|NSFL1C_uc002wfe.3_Silent_p.L162L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	193	SEP.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCCATTATCCAGGCTGAATC	0.468000													6	204					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	uc002utj.4	-	39	6640	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2180	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L2180L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398000													3	96					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32158384	32158384	+	Missense_Mutation	SNP	G	G	T	rs2229803	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:32158384G>T	uc001btk.1	-	13	1462	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	COL16A1_uc001btj.1_Missense_Mutation_p.P195Q|COL16A1_uc001btl.4_Missense_Mutation_p.P366Q	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	366	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGGGCATCCGGGGAGATTCG	0.602000													4	44					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36054346	36054346	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:36054346C>A	uc002oal.1	-	1	125	c.96G>T	c.(94-96)gcG>gcT	p.A32A		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	32					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCCGCCACCCGCCTTCTTCT	0.597000													7	213					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092575	34092575	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34092575C>A	uc021wco.1	+	29	7025	c.6378C>A	c.(6376-6378)ccC>ccA	p.P2126P	CEP250_uc010zve.2_Silent_p.P1494P	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2126	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCCTTACCCCACAGCCACA	0.537000													6	127					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50872898	50872898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:50872898C>A	uc001jhz.2	+	14	2206	c.2053C>A	c.(2053-2055)Cag>Aag	p.Q685K	CHAT_uc001jhv.1_Missense_Mutation_p.Q567K|CHAT_uc001jhx.1_Missense_Mutation_p.Q567K|CHAT_uc001jhy.1_Missense_Mutation_p.Q567K|CHAT_uc001jia.2_Missense_Mutation_p.Q603K|CHAT_uc010qgs.1_Intron	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	685					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.P684P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTACAACCCCCAGCCAGAGAC	0.517000													7	264					0	0	1	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716889	13716889	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:13716889C>A	uc009vnz.1	+	1	406	c.376C>A	c.(376-378)Cca>Aca	p.P126T		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	126								p.P126L(1)		kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGCTCCCCAGAGGCCAT	0.527000													7	260					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745645	131745645	+	Missense_Mutation	SNP	C	C	A	rs145874026	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:131745645C>A	uc004bws.1	+	17	1892	c.1870C>A	c.(1870-1872)Cgc>Agc	p.R624S	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	624					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R624G(2)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTTGGCTGCCCGCAATCCAGC	0.458000													5	113					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418916	105418916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105418916C>A	uc010axc.1	-	6	2992	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E858*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	958						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGACACCTCGCCATCGGGG	0.632000													7	342					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961098	55961098	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:55961098C>A	uc003has.3	-	20	3144	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W	KDR_uc003hat.1_Missense_Mutation_p.G948W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	948	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.G948E(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTCTTTCCCTTGACGGAAT	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	86					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:150931786C>T	uc003eyr.1	-	2	797	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.V107I|P2RY14_uc021xfz.1_Missense_Mutation_p.V107I	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	107						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453000													8	39					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11012370	11012370	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:11012370C>A	uc002daj.4	+	15	3272	c.3139C>A	c.(3139-3141)Ctg>Atg	p.L1047M	CIITA_uc002dai.4_Missense_Mutation_p.L1046M|CIITA_uc002dak.4_Missense_Mutation_p.L462M	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	1046					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGCTGCATCCCTGCTCAGGCT	0.657000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	209					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373500	36373500	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:36373500C>A	uc003tfd.2	-	4	1322	c.1271G>T	c.(1270-1272)cGg>cTg	p.R424L	KIAA0895_uc003tfc.2_Missense_Mutation_p.R411L|KIAA0895_uc011kax.1_Missense_Mutation_p.R421L|KIAA0895_uc003tfb.2_Missense_Mutation_p.R373L|KIAA0895_uc011kaw.2_Missense_Mutation_p.R321L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	424										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCTTGGCCCGTACACAATA	0.413000													4	112					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123333147	123333147	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:123333147C>A	uc003ego.3	-	33	5832	c.5550G>T	c.(5548-5550)agG>agT	p.R1850S	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Missense_Mutation_p.R90S|MYLK_uc003egm.3_Missense_Mutation_p.R89S|MYLK_uc010hrr.3_Missense_Mutation_p.R285S|MYLK_uc011bjv.2_Missense_Mutation_p.R650S|MYLK_uc011bjw.2_Missense_Mutation_p.R1849S|MYLK_uc003egp.3_Missense_Mutation_p.R1781S|MYLK_uc003egq.3_Missense_Mutation_p.R1799S|MYLK_uc003egr.3_Missense_Mutation_p.R1730S|MYLK_uc003egs.3_Missense_Mutation_p.R1674S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1850	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCGGGACTCCCTGATTGACT	0.483000													6	81					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:43915893G>C	uc004ada.2	+	22	4151	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I	CNTNAP3B_uc004adb.3_Missense_Mutation_p.M161I	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	53					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000													4	43					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422317	115422317	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:115422317C>A	uc011lwx.1	+	4	2378	c.2203C>A	c.(2203-2205)Cgg>Agg	p.R735R	KIAA1958_uc004bgf.1_Silent_p.R707R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	707										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCAGGTCTCCCGGAGGCTTGG	0.622000													6	87					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4747374	4747374	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:4747374G>T	uc002cxj.2	-	15	2149	c.1854C>A	c.(1852-1854)ccC>ccA	p.P618P	ANKS3_uc010uxr.2_Silent_p.P141P|ANKS3_uc002cxh.2_Non-coding_Transcript|ANKS3_uc002cxi.2_Silent_p.P545P|ANKS3_uc021tcj.1_Silent_p.P489P|ANKS3_uc021tck.1_Silent_p.P511P|ANKS3_uc002cxk.3_Silent_p.P489P|ANKS3_uc010uxs.2_Silent_p.P545P	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	618										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCGAGAGCTCGGGGAGGCTCA	0.657000													6	81					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	uc002knm.3	-	61	9055	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q	LAMA1_uc002knk.3_Missense_Mutation_p.H317Q|LAMA1_uc002knl.3_Missense_Mutation_p.H440Q|LAMA1_uc010wzj.2_Missense_Mutation_p.H2463Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2987	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGATACGGTGTTTGCTTT	0.493000													5	137					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842976	128842976	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:128842976C>A	uc009zcp.3	-	20	3383	c.3383G>T	c.(3382-3384)gGg>gTg	p.G1128V	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.G87V|ARHGAP32_uc001qez.3_Missense_Mutation_p.G779V	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1128					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTAGGATCCCCAGTAGCTGT	0.488000													7	260					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23692271	23692271	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:23692271G>T	uc002dlz.1	+	2	667	c.614G>T	c.(613-615)gGg>gTg	p.G205V		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	205	Activation loop.|Protein kinase.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAATATGACGGGGAGAGGAAG	0.522000													7	157					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119169175	119169175	+	Missense_Mutation	SNP	C	C	A	rs143132980		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:119169175C>A	uc001pwe.3	+	14	2497	c.2359C>A	c.(2359-2361)Cgc>Agc	p.R787S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	787	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CGTGCTGGCCCGCCGAACTCT	0.542000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				4	80					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409938	45409938	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:45409938G>T	uc001zuo.3	+	5	1075	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Silent_p.P364P|DUOXA1_uc001zup.3_Silent_p.P409P|DUOXA1_uc010bec.3_Silent_p.P409P	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	265					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCCTCGGAGGGGCCGTGGTG	0.622000													6	104					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69550106	69550106	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:69550106G>T	uc004dyg.3	+	8	1138	c.995G>T	c.(994-996)aGa>aTa	p.R332I	KIF4A_uc010nkw.3_Missense_Mutation_p.R332I|KIF4A_uc004dyf.2_Missense_Mutation_p.R332I	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	332	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATGCTGACAGAGCAAGAAAA	0.388000													5	109					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594757	195594757	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:195594757C>A	uc003fvu.1	-	11	2910	c.2367G>T	c.(2365-2367)tcG>tcT	p.S789S	TNK2_uc003fvq.1_Silent_p.S196S|TNK2_uc003fvr.1_Silent_p.S314S|TNK2_uc003fvs.1_Silent_p.S821S|TNK2_uc003fvt.1_Silent_p.S867S|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	789	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGGTGTCCTCGAGCCTTGAG	0.706000													4	46					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319857	55319857	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:55319857C>A	uc002lgw.3	-	24	3240	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	1040			G -> R (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATGTTAGGACCCCATGCAACA	0.463000													6	99					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825381	131825381	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:131825381G>T	uc003vra.4	-	29	5644	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P	PLXNA4_uc003vqz.4_Silent_p.P90P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1805						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTTGTAGCTGGGGATGTCCT	0.612000													6	81					0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97051751	97051751	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:97051751C>A	uc021rcc.1	+	3	545	c.467C>A	c.(466-468)cCt>cAt	p.P156H				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	156										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGAGCATCCTTTGGATGAT	0.358000													6	159					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459167	66459167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:66459167C>A	uc021xzk.1	+	28	4468	c.4160C>A	c.(4159-4161)cCg>cAg	p.P1387Q	MAST4_uc003jut.2_Missense_Mutation_p.P1198Q|MAST4_uc003juw.3_Missense_Mutation_p.P1126Q|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1390						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L1386_Q1387>L*(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTCCAACCCCGCAACCCACC	0.662000													4	68					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613720	27613720	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:27613720C>A	uc002hdy.4	-	1	1381	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	431						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGGCTGACCCCCTGGAGGATA	0.468000													5	55					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001983	98001983	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:98001983C>A	uc003dsj.1	+	0	252	c.252C>A	c.(250-252)ccC>ccA	p.P84P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P84P(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGTAACTCCCAAAATGTTGG	0.378000													6	248					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25436497	25436497	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:25436497G>T	uc001yzf.1	+	1		c.111_splice	c.e1+1		SNORD115-9_uc001yzg.1_5'Flank|SNRPN_uc001yzh.2_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACTGAGCTGCGGTGAGCCTAT	0.607000									Prader-Willi syndrome				5	143					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058429	19058429	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:19058429G>T	uc002dfp.2	+	11	1728	c.1598G>T	c.(1597-1599)tGg>tTg	p.W533L	TMC7_uc002dfq.3_Missense_Mutation_p.W533L|TMC7_uc010vap.2_Missense_Mutation_p.W423L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	533						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTCAGTGCTGGGGGCAGCAG	0.532000													6	256					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5144058	5144058	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:5144058C>A	uc010xim.2	+	18	2841	c.2733C>A	c.(2731-2733)tcC>tcA	p.S911S	KDM4B_uc002mbq.4_Silent_p.S877S|KDM4B_uc002mbr.4_Silent_p.S635S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	877					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCCACGTCCTTCCACGTGA	0.627000													5	101					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	uc001doa.4	-	4	733	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.K212E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	212							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343000													7	43					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594484	111594484	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:111594484C>A	uc001plt.3	+	14	2530	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	804					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCTGCCCTCCACTTCCGGTC	0.672000													7	234					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108142978	108142978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:108142978C>A	uc003vff.1	-	5	1722	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	PNPLA8_uc003vfi.1_Missense_Mutation_p.G339W|PNPLA8_uc003vfh.1_Missense_Mutation_p.G439W|PNPLA8_uc003vfj.1_Missense_Mutation_p.G439W|PNPLA8_uc003vfk.1_Missense_Mutation_p.G339W	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	439					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTCCTCTCCCTTTCACTGGA	0.358000													5	100					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118960953	118960953	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:118960953C>A	uc001puz.1	+	7	633	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	HMBS_uc009zao.2_Missense_Mutation_p.P104Q|HMBS_uc001pva.1_Missense_Mutation_p.P159Q|HMBS_uc001pve.1_Missense_Mutation_p.P142Q|HMBS_uc001pvf.1_Missense_Mutation_p.P142Q	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	159					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGAAAGTTCCCGCATCTGGAG	0.493000													5	126					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186790707	186790707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:186790707C>A	uc003frb.3	+	5	1409	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	ST6GAL1_uc003frc.3_Missense_Mutation_p.P28Q|ST6GAL1_uc003frd.3_Missense_Mutation_p.P259Q	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	259					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTATGGGACCCATCTGTATAC	0.443000													5	116					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	uc003guy.4	+	7	2081	c.1743A>G	c.(1741-1743)atA>atG	p.I581M	N4BP2_uc010ifq.3_Missense_Mutation_p.I501M|N4BP2_uc010ifr.3_Missense_Mutation_p.I501M	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	581						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358000													17	51					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	uc011kum.2	+	6	1613	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF398_uc011kul.2_Missense_Mutation_p.P315L|ZNF398_uc003wfl.3_Missense_Mutation_p.P486L	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	486					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612000													12	61					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139292812	139292812	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:139292812G>T	uc004chh.3	-	0	78	c.69C>A	c.(67-69)ccC>ccA	p.P23P		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	23					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCGAGGAGCCGGGATCCAAAA	0.537000													4	121					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8921452	8921452	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:8921452G>T	uc001apj.2	-	11	1794	c.1272C>A	c.(1270-1272)gcC>gcA	p.A424A	ENO1_uc001api.2_Silent_p.A331A	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	424	Required for interaction with PLG (By similarity).				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTCCTGCCGGCAAACTTAG	0.522000													5	81					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110410	42110410	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:42110410G>T	uc001zok.4	+	18	2303	c.2017G>T	c.(2017-2019)Ggg>Tgg	p.G673W	MAPKBP1_uc010bci.3_Missense_Mutation_p.G667W|MAPKBP1_uc010udb.2_Missense_Mutation_p.G506W|MAPKBP1_uc001zoj.4_Missense_Mutation_p.G667W|MAPKBP1_uc010bcj.3_Missense_Mutation_p.G174W|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.G174W	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	673										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACCCCTCAGGGATCTACAT	0.582000													5	75					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348867	30348867	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:30348867C>A	uc002hgu.3	+	0	713	c.702C>A	c.(700-702)ccC>ccA	p.P234P	LRRC37B_uc010wbx.2_Silent_p.P152P|LRRC37B_uc010csu.3_Silent_p.P234P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	234						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACTGTATCCCGGCAGCCTAC	0.493000													8	220					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822533	97822533	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:97822533C>A	uc003upd.2	+	10	3049	c.2756C>A	c.(2755-2757)cCg>cAg	p.P919Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	919					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGTAGTCTCCCGGAACTGGGA	0.507000													5	136					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554393	85554393	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:85554393C>A	uc021vjw.1	-	1	796	c.462G>T	c.(460-462)tcG>tcT	p.S154S	TGOLN2_uc002spb.3_Silent_p.S154S|TGOLN2_uc002soz.3_Silent_p.S154S|TGOLN2_uc021vjx.1_Silent_p.S154S|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Silent_p.S154S	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	154	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CCTCCGCACCCGACCTGTTGG	0.582000													9	559					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146066830	146066830	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:146066830C>A	uc010mge.3	+	4	508	c.371C>A	c.(370-372)cCa>cAa	p.P124Q	ZNF7_uc003zeg.4_Missense_Mutation_p.P113Q|ZNF7_uc011lln.2_Missense_Mutation_p.P17Q|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.P17Q|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	113					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAATCTCCCCACAGGACTTT	0.473000													7	260					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729462	18729462	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:18729462C>A	uc003wza.3	-	2	1015	c.912G>T	c.(910-912)gtG>gtT	p.V304V		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	304					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACAGTATTTCCACTCCTTGAA	0.522000													5	127					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83273	83273	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrGL000219.1:83273G>A	uc022brb.1	-	3	394	c.81C>T	c.(79-81)tgC>tgT	p.C27C	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		CTGCTTCATTGCATCTAATAA	0.373000													4	29					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134001	91134001	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:91134001G>T	uc004efk.2	+	1	3607	c.2762G>T	c.(2761-2763)tGg>tTg	p.W921L	PCDH11X_uc004efl.2_Missense_Mutation_p.W921L|PCDH11X_uc010nmv.2_Missense_Mutation_p.W921L|PCDH11X_uc004efm.2_Missense_Mutation_p.W921L|PCDH11X_uc004efn.2_Missense_Mutation_p.W921L|PCDH11X_uc004efo.2_Missense_Mutation_p.W921L|PCDH11X_uc004efh.2_Missense_Mutation_p.W921L|PCDH11X_uc004efj.1_Missense_Mutation_p.W921L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	921					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.W921L(4)|p.W921C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTACAATTGGGTAACTACA	0.448000													6	128					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930952	46930952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:46930952C>T	uc003bhw.1	-	0	2116	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	706	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTCAGCACGCTGCTCCCC	0.627000													6	28					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135204928	135204928	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:135204928C>A	uc001lmv.3	+	6	1585	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q	PAOX_uc001lmx.3_Silent_p.P449P|PAOX_uc001lmy.3_3'UTR|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript|MTG1_uc001lnd.3_5'Flank	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	640				L -> F (in Ref. 2; AAS64381).	polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CTGTGGGCCCCGCAGGTGCAG	0.647000													4	85					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014189	58014189	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:58014189C>A	uc001spe.3	+	0	497	c.186C>A	c.(184-186)ccC>ccA	p.P62P	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	62						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTTTCTTCCCCGTCCTCATCT	0.542000													9	543					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743766	26743766	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:26743766G>T	uc003acb.3	+	10	2490	c.2294G>T	c.(2293-2295)cGg>cTg	p.R765L	SEZ6L_uc003acd.3_Missense_Mutation_p.R765L|SEZ6L_uc011akd.2_Missense_Mutation_p.R765L|SEZ6L_uc003ace.3_Missense_Mutation_p.R765L|SEZ6L_uc011akc.2_Missense_Mutation_p.R765L|SEZ6L_uc003acc.3_Missense_Mutation_p.R765L|SEZ6L_uc003acf.1_Missense_Mutation_p.R538L|SEZ6L_uc010gvc.1_Missense_Mutation_p.R538L|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	765	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTTGGTGCGGGGAGCCAGA	0.557000													5	94					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242147077	242147077	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:242147077C>A	uc002wax.2	+	10	1334	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	411						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCCTGTGCCCTGGCCCAGGT	0.617000													5	110					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802285	120802285	+	Splice_Site	SNP	C	C	A	rs113384668		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:120802285C>A	uc001ldu.3	-	19	2894	c.2748_splice	c.e19-1	p.K916_splice	EIF3A_uc010qsu.2_Splice_Site_p.K882_splice|EIF3A_uc009xzg.1_Splice_Site	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	916					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCCACTCCCTACACAGCAA	0.423000													6	146					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769839	125769839	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:125769839C>A	uc009zbv.3	+	3	1110	c.576C>A	c.(574-576)ccC>ccA	p.P192P	HYLS1_uc001qcx.4_Silent_p.P192P|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Silent_p.P192P	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA.	192						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGCAGACCCAAGTCCTTTA	0.488000													5	82					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	uc002avg.4	-	6	1220	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	ADPGK_uc002ave.4_Missense_Mutation_p.L101F|ADPGK_uc010ukw.2_Missense_Mutation_p.L318F|ADPGK_uc002avf.4_Missense_Mutation_p.L375F|ADPGK_uc002avi.4_Missense_Mutation_p.L253F|ADPGK_uc002avh.4_Missense_Mutation_p.L137F	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	376	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552000													11	57					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	uc003mvu.3	+	1	607	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_uc021ykt.1_Silent_p.L165L	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	165						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687000													6	47					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56582246	56582246	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:56582246C>A	uc002iwj.2	-	11	1303	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	398	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGCCTTCCCGGTCTACTGT	0.547000													4	83					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140086701	140086701	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:140086701C>A	uc004clt.3	-	2	2083	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W	TPRN_uc004clu.3_Intron	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TCCACTCCCCCGCATCTCACC	0.662000													4	72					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74235269	74235269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:74235269C>A	uc002awc.1	+	1	1513	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	393	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTGTACTCCCTGCGCTGTGC	0.592000													6	149					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226423	2226423	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:2226423G>T	uc002lvc.1	+	12	2552	c.1785G>T	c.(1783-1785)tcG>tcT	p.S595S	DOT1L_uc002lvb.4_Silent_p.S1301S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1301						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCTGTCGGGGGCTGACG	0.682000													4	41					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330170	76330170	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:76330170C>A	uc010ask.2	+	29	3807	c.3532C>A	c.(3532-3534)Cgg>Agg	p.R1178R	TTLL5_uc001xrx.3_Silent_p.R1163R|TTLL5_uc001xrz.3_Silent_p.R738R|TTLL5_uc001xsa.3_Silent_p.R237R	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1163					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.R1163R(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACTTCAGTCCCGGCAGCTCCT	0.478000													4	109					0	0	1	0	0
NGB	58157	broad.mit.edu	37	14	77737232	77737232	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:77737232T>C	uc001xtg.1	-	0	424	c.49A>G	c.(49-51)Agc>Ggc	p.S17G		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Homo sapiens neuroglobin (NGB), mRNA.	17	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GGGCTGCGGCTCACTGCCCGC	0.746000													2	5					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	uc003nzl.2	-	14	5576	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1874	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622000													8	22					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707095	6707095	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6707095G>T	uc001qpo.3	-	11	2021	c.1857C>A	c.(1855-1857)ccC>ccA	p.P619P	CHD4_uc001qpn.3_Silent_p.P612P|CHD4_uc001qpp.3_Silent_p.P616P	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	619					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|zinc ion binding	p.P619P(2)		central_nervous_system(2)	2						TCATCCACTCGGGTTTTATCC	0.512000													6	228					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	uc003chy.3	+	15	1771	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G	OXSR1_uc010hhb.3_Missense_Mutation_p.R411G	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	477					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458000													6	230					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185310204	185310204	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:185310204C>A	uc003iwf.4	-	8	958	c.758G>T	c.(757-759)cGg>cTg	p.R253L		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	253					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATTCCTCTTCCGCCAGTGTGG	0.493000													5	142					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104157361	104157361	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:104157361C>A	uc001tjw.3	+	67	7766	c.7580C>A	c.(7579-7581)cCa>cAa	p.P2527Q	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2527					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCAGCTCCCCCAGAACCTTCC	0.483000													6	215					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17942241	17942241	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:17942241C>A	uc002gse.1	-	0	240	c.87G>T	c.(85-87)ccG>ccT	p.P29P	C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_Non-coding_Transcript|ATPAF2_uc010vxf.1_Silent_p.P29P	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	29					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TGGTTGGCCCCGGACTCATAG	0.687000													3	34					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124357245	124357245	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124357245C>A	uc003yqh.4	-	18	2705	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	ATAD2_uc011lii.2_Missense_Mutation_p.W657L|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.W866L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AACTATTTCCCACCACACGTG	0.393000													7	258					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20682907	20682907	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:20682907G>T	uc002dhm.1	-	3	766	c.698C>A	c.(697-699)cCc>cAc	p.P233H	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P233H	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	233					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGCCATCTTGGGGAAGCCTGT	0.542000													5	68					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311098	43311098	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:43311098C>A	uc010dnk.3	+	4	660	c.438C>A	c.(436-438)ccC>ccA	p.P146P	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Silent_p.P90P|SLC14A1_uc002lbf.4_Silent_p.P90P|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_5'UTR|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Silent_p.P146P|SLC14A1_uc002lbk.4_Silent_p.P90P|SLC14A1_uc021ujg.1_Silent_p.P90P	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	90						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAGAACCCCTGGTGGGCTC	0.547000													5	70					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	uc003wjg.1	+	14	2005	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	AGAP3_uc003wje.1_Missense_Mutation_p.V337I|AGAP3_uc003wjj.1_Missense_Mutation_p.V167I|AGAP3_uc003wjk.1_Missense_Mutation_p.V86I	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	632	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622000													42	202					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700934	6700934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6700934C>A	uc001qpo.3	-	20	3312	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	CHD4_uc001qpn.3_Missense_Mutation_p.G1043W|CHD4_uc001qpp.3_Missense_Mutation_p.G1047W	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1050					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|zinc ion binding			central_nervous_system(2)	2						AATAATTTCCCAGATGCTCTG	0.443000													5	84					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099384	91099384	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:91099384G>T	uc001kgf.3	+	1	1201	c.972G>T	c.(970-972)aaG>aaT	p.K324N	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.K324N	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	324					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCTTGAGAAGGGACTGAATC	0.413000													5	57					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37314238	37314238	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:37314238C>A	uc021utk.1	-	3	607	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.G60W|ZNF790_uc021utl.1_Missense_Mutation_p.G60W|ZNF790_uc021utm.1_Missense_Mutation_p.G60W	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCTCTTTCCCTTTCTCCAAT	0.453000													4	43					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898650	112898650	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:112898650C>A	uc004bei.2	+	8	1714	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.L276M|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.L276M|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.L86M|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.L134M|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.L134M|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.L94M|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.L45M|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.L45M	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	45							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCACGAATCCCTGGATAATGA	0.507000													5	124					0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6978334	6978334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6978334G>T	uc001qrk.3	+	2	458	c.422G>T	c.(421-423)gGg>gTg	p.G141V	TPI1_uc010sfo.2_Missense_Mutation_p.G22V	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	104					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATGTCTTTGGGGAGTCAGAT	0.502000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	251					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:151879331G>A	uc003wla.3	-	35	5833	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q933*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1872	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGAGAAGTCTGAGCCTGAGAA	0.512000			N		medulloblastoma								27	122					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157648602	157648602	+	Silent	SNP	G	G	A	rs148976786	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:157648602G>A	uc001fqz.4	-	14	2395	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.D427D|FCRL3_uc001frb.3_Silent_p.D701D|FCRL3_uc001frc.1_Silent_p.D701D	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	701						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCAGAGTCGTCTGGGTGTG	0.468000													8	51					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368874	26368874	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:26368874C>A	uc010jqh.2	+	3	426	c.167C>A	c.(166-168)cCg>cAg	p.P56Q	BTN3A2_uc003nhp.3_Missense_Mutation_p.P56Q|BTN3A2_uc011dkd.2_Missense_Mutation_p.P14Q|BTN3A2_uc011dke.2_Missense_Mutation_p.P33Q|BTN3A2_uc010jqi.2_Missense_Mutation_p.P56Q	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	56	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CACCTGTTCCCGACCATGAGT	0.562000													6	202					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896676	124896676	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:124896676C>A	uc003ehw.4	-	4	690	c.620G>T	c.(619-621)tGg>tTg	p.W207L	SLC12A8_uc003ehv.4_Missense_Mutation_p.W178L|SLC12A8_uc010hrz.1_Missense_Mutation_p.W43L	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	178					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCGGATTATCCATTTGACACC	0.557000													4	48					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041350	65041350	+	Splice_Site	SNP	C	C	A	rs113425903		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:65041350C>A	uc002anq.3	-	5	520	c.268_splice	c.e5-1	p.G90_splice		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	90	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGCGAATACCCTACATGGGTA	0.498000													5	117					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882928	228882928	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:228882928G>T	uc002vpq.2	-	6	2689	c.2642C>A	c.(2641-2643)cCa>cAa	p.P881Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.P881Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.P881Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	881						cytoplasm	protein binding	p.P881Q(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGGTGTTTGGGTGGATACT	0.522000													8	200					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746196	46746196	+	Missense_Mutation	SNP	C	C	A	rs138811629		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:46746196C>A	uc001cpn.3	-	5	1837	c.1793G>T	c.(1792-1794)cGg>cTg	p.R598L	LRRC41_uc010omb.2_Missense_Mutation_p.R598L	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	598										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGCTCCCCGTGGAAATCC	0.587000													5	147					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	uc002tal.4	-	4	1876	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	412					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448000													9	94					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538468	47538468	+	Missense_Mutation	SNP	C	C	A	rs139274170	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:47538468C>A	uc003gxk.1	+	7	1194	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.L344M	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	344					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGAATCTGGCTGAGCAGGTA	0.363000													7	198					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80398917	80398917	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80398917G>T	uc002kev.4	+	9	1443	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	HEXDC_uc002kew.3_Missense_Mutation_p.G343W|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	343					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAACCTTCTCGGGATTTCCAG	0.592000													5	268					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99146744	99146744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:99146744G>T	uc003yij.4	+	6	968	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	POP1_uc011lgv.2_Missense_Mutation_p.G290W|POP1_uc003yik.3_Missense_Mutation_p.G290W	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	290					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCGCCAAGGGAGCCTTGT	0.493000													6	124					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559748	46559748	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:46559748C>A	uc010tfw.1	-	8	1410	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	ZC3H13_uc001vas.1_Missense_Mutation_p.R468S|ZC3H13_uc001vat.1_Missense_Mutation_p.R468S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	468	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTAGTTCCCTTCGGTCCC	0.502000													6	148					0	0	1	0	0
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	uc002owz.2	+	2	489	c.316A>C	c.(316-318)Act>Cct	p.T106P	IRGQ_uc010eiv.2_5'Flank|ZNF576_uc002owy.2_Missense_Mutation_p.T106P|SRRM5_uc002oxb.2_Intron	NM_001145347	NP_077303	Q9H609	ZN576_HUMAN	Homo sapiens zinc finger protein 576 (ZNF576), transcript variant 2, mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652000													9	97					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542178	75542178	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75542178C>A	uc001jvc.4	+	1	248	c.222C>A	c.(220-222)ctC>ctA	p.L74L	CHCHD1_uc001jvb.2_Silent_p.L74L	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	74	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					AGGGCTTCCTCGATTGTGCCG	0.537000													4	98					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169601	27169601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:27169601C>A	uc011lno.2	+	3	1044	c.602C>A	c.(601-603)tCg>tAg	p.S201*	TEK_uc010mjc.1_Nonsense_Mutation_p.S54*|TEK_uc011lnn.1_Nonsense_Mutation_p.S201*|TEK_uc003zqi.4_Nonsense_Mutation_p.S201*|TEK_uc011lnp.2_Nonsense_Mutation_p.S97*|TEK_uc003zqj.1_Nonsense_Mutation_p.S178*	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	201					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTCTTCACCTCGGCCTTCACC	0.478000													5	126					0	0	1	0	0
C1orf194	127003	broad.mit.edu	37	1	109648682	109648682	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:109648682G>T	uc009wev.3	-	4	546	c.478C>A	c.(478-480)Cga>Aga	p.R160R	C1orf194_uc001dwp.4_Non-coding_Transcript|C1orf194_uc009wew.3_Silent_p.R148R	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	160										large_intestine(2)|lung(2)|ovary(2)	6						TCTTTCTTTCGGGAGTAGCCT	0.458000													4	100					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53992138	53992138	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:53992138C>A	uc002acj.2	-	12	1616	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M	WDR72_uc010bfi.1_Missense_Mutation_p.R525M	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	525										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTGCTCACCCCTTAGCTGTGA	0.413000													5	103					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690684	33690684	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:33690684C>A	uc002hjg.4	-	1	390	c.143G>T	c.(142-144)cGg>cTg	p.R48L	SLFN11_uc010ctr.3_Missense_Mutation_p.R48L|SLFN11_uc010ctp.3_Missense_Mutation_p.R48L|SLFN11_uc010ctq.3_Missense_Mutation_p.R48L|SLFN11_uc002hjh.4_Missense_Mutation_p.R48L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	48						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGCAGCCCGCATAACTCT	0.458000													6	201					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20180496	20180496	+	Missense_Mutation	SNP	C	C	A	rs116508993	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:20180496C>A	uc002wru.3	+	16	1996	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	C20orf26_uc010zse.2_Missense_Mutation_p.L608M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	628										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTCTATCCTCTGGAAAAGCT	0.602000													7	151					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	uc003mjw.3	-	3	955	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_uc011dgm.2_Missense_Mutation_p.E285K	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	285	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637000													9	128					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160275314	160275314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:160275314C>A	uc001fvv.4	-	16	1997	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	COPA_uc009wti.3_Nonsense_Mutation_p.E526*|COPA_uc009wtj.1_Nonsense_Mutation_p.E472*	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	526					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGTTCTCATGAATGTTA	0.448000													6	93					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461494	91461494	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:91461494C>A	uc010bnz.2	+	20	3180	c.3065C>A	c.(3064-3066)cCg>cAg	p.P1022Q	MAN2A2_uc002bqc.3_Missense_Mutation_p.P1022Q|MAN2A2_uc010uql.2_Missense_Mutation_p.P684Q|MAN2A2_uc010uqm.2_Missense_Mutation_p.P601Q|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1022					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.A1021T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAACGCCCCGGCGCTCGCT	0.592000													5	111					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	3					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	uc003gkb.4	+	9	1385	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_uc011bwi.2_Missense_Mutation_p.D290V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	462						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468000													7	25					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6054935	6054935	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:6054935C>A	uc003spo.3	+	1	407	c.294C>A	c.(292-294)ccC>ccA	p.P98P		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	98	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGATGAGCCCACGACTTTAA	0.458000													5	97					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069594	55069594	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55069594G>T	uc001cxm.2	+	10	1312	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	ACOT11_uc001cxj.2_Missense_Mutation_p.W257L|ACOT11_uc001cxl.2_Missense_Mutation_p.W379L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	379	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCCGTCCCCTGGGACCCTAGC	0.582000													6	90					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316747	11316747	+	Missense_Mutation	SNP	C	C	A	rs148259441		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:11316747C>A	uc004cus.3	+	5	334	c.266C>A	c.(265-267)cCg>cAg	p.P89Q	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75Q|AMELX_uc004cuu.3_Missense_Mutation_p.P59Q	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	75					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602000													4	86					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104340581	104340581	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:104340581G>T	uc003ylh.3	+	4	1768	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	FZD6_uc011lhn.2_Missense_Mutation_p.W461L|FZD6_uc003ylj.3_Missense_Mutation_p.W493L|FZD6_uc011lho.2_Missense_Mutation_p.W188L|FZD6_uc011lhp.2_Missense_Mutation_p.W438L	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	493					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCTGTCTTCTGGGTTGGAAGC	0.358000													5	78					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425739	88425739	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:88425739C>A	uc002sst.2	-	1	310	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	66					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCCTCCCCCACCGTGAAT	0.532000													8	244					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	uc001nxk.1	-	11	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_uc010rms.1_Missense_Mutation_p.G415S|ATL3_uc010rmr.1_Missense_Mutation_p.G91S	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	433					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493000													5	95					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18640582	18640582	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:18640582C>A	uc002zny.3	+	1	490	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA.	51					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGGGACTACCCTCATGGTCAT	0.552000													6	113					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3594310	3594310	+	Missense_Mutation	SNP	C	C	A	rs145045591	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:3594310C>A	uc010btn.3	-	16	3199	c.2788G>T	c.(2788-2790)Ggg>Tgg	p.G930W		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	931					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGTCATCCCCGATGGCGTTC	0.592000													4	62					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:50370414A>G	uc002pqj.3	-	1	158	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(12)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					6	24					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2161147	2161147	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:2161147C>A	uc004cqf.4	-	5	770	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	241							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGACCACCCCGGGGTCCACC	0.622000													4	66					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85666010	85666010	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:85666010G>T	uc009wcm.3	-	0	719	c.670C>A	c.(670-672)Cca>Aca	p.P224T	SYDE2_uc001dku.4_Missense_Mutation_p.P224T	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	224					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCCACATTTGGGGAGGCTGCC	0.557000													6	133					0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28599836	28599836	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:28599836C>A	uc002hez.2	-	7	1230	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	BLMH_uc010wbn.2_Missense_Mutation_p.G208W	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	295					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTTTTTCTCCCTCCAACCATA	0.403000													5	99					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000													9	56					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73105622	73105622	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:73105622C>A	uc001otv.3	+	8	1054	c.889C>A	c.(889-891)Cgc>Agc	p.R297S	RELT_uc001otw.3_Missense_Mutation_p.R297S|RELT_uc001otx.3_Non-coding_Transcript	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	297						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGCTCCCGCTGTAGCCA	0.682000													4	77					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	uc021xuh.1	-	18	2777	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_uc003irq.4_Missense_Mutation_p.I889M|DDX60L_uc003irr.1_Missense_Mutation_p.I889M|DDX60L_uc003irs.1_Missense_Mutation_p.I584M	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	889	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358000													15	84					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	uc003ewy.4	-	15	3070	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Silent_p.S91S|CP_uc003ewx.4_Silent_p.S720S|CP_uc003ewz.3_Silent_p.S939S	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323000													6	94					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30771693	30771693	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:30771693C>A	uc002dzm.3	-	3	877	c.381G>T	c.(379-381)gcG>gcT	p.A127A	PHKG2_uc021tgo.1_3'UTR|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Silent_p.A90A|C16orf93_uc021tgp.1_5'UTR|C16orf93_uc002dzp.3_Silent_p.A127A|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank|RNF40_uc010vfb.2_5'Flank|RNF40_uc002dzr.3_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.	127								p.E127Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGAAAATGAGCGCGTGGCAGA	0.622000													4	87					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75533466	75533466	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75533466C>A	uc001jva.3	+	1	1270	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Silent_p.P409P	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	409					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGGCCTCTCCCGGGGACAGCC	0.587000													5	137					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:12835281C>A	uc001aui.3	+	0	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	91										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTGCCCAGAAGGTTCG	0.597000													5	105					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155925	111155925	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:111155925C>A	uc004epl.1	-	2	1413	c.494G>T	c.(493-495)cGg>cTg	p.R165L	TRPC5_uc004epm.1_Missense_Mutation_p.R165L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	165					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATAGTGACCCGTTTTTGGAC	0.537000													4	70					0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120782100	120782100	+	Missense_Mutation	SNP	G	G	T	rs149665410		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:120782100G>T	uc003vjq.4	+	15	2407	c.1960G>T	c.(1960-1962)Ggt>Tgt	p.G654C	C7orf58_uc003vjs.4_Missense_Mutation_p.G654C|C7orf58_uc003vjt.4_Missense_Mutation_p.G434C	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	654						endoplasmic reticulum		p.G654C(2)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TCCAGCACACGGTGAGACTCT	0.468000													4	130					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	uc001vix.4	-	7	1603	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_uc001viy.4_Missense_Mutation_p.R380K|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	410					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323000										Multiple Myeloma(4;0.011)			10	42					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072001	17072001	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:17072001C>A	uc002zlp.1	-	0	1700	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	480					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTCAGTTCCCACACCCATTA	0.512000													6	167					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	uc001sti.2	+	1	588	c.560A>G	c.(559-561)gAa>gGa	p.E187G	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	187					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353000													10	72					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380335	147380335	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:147380335G>A	uc021ovm.1	+	0	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	GJA8_uc001epu.2_Missense_Mutation_p.V85I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	85					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCATCTTCGTCTCCACCCC	0.637000													10	80					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113338551	113338551	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:113338551G>T	uc021xcn.1	+	21	2734	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W	SIDT1_uc003eak.3_Missense_Mutation_p.G690W|SIDT1_uc011big.2_Missense_Mutation_p.G443W|SIDT1_uc021xcq.1_Missense_Mutation_p.G149W|SIDT1_uc011bii.2_Missense_Mutation_p.G143W	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	690						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCTGGTTGTGGGGAATCTGGT	0.383000													8	323					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059293	13059293	+	Silent	SNP	C	C	A	rs138416749	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:13059293C>A	uc010xac.2	+	20	4550	c.4470C>A	c.(4468-4470)gcC>gcA	p.A1490A	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.A1015A|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Silent_p.A1231A	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1085										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCCATTGCCGAGAGTCCTG	0.433000													4	106					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135539101	135539101	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:135539101C>A	uc003qfh.3	+	15	2468	c.2269C>A	c.(2269-2271)Cgg>Agg	p.R757R	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.R636R|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Silent_p.R262R|MYB_uc003qfw.3_Silent_p.R448R|MYB_uc010kgi.3_Silent_p.R599R|MYB_uc003qfq.3_Silent_p.R754R|MYB_uc010kgj.3_Silent_p.R601R|MYB_uc003qfo.3_Silent_p.R551R|MYB_uc003qfu.3_Silent_p.R633R|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Silent_p.R741R|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	636					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ATTCTCAGCCCGGACGCTGGT	0.443000			T	NFIB	adenoid cystic carcinoma								4	68					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74515977	74515977	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:74515977C>A	uc003xzm.3	-	9	1354	c.1013G>T	c.(1012-1014)cGa>cTa	p.R338L	STAU2_uc011lfh.2_Missense_Mutation_p.R234L|STAU2_uc003xzn.3_Missense_Mutation_p.R306L|STAU2_uc011lfg.2_Missense_Mutation_p.R166L|STAU2_uc003xzo.3_Missense_Mutation_p.R338L|STAU2_uc003xzq.3_Missense_Mutation_p.R118L|STAU2_uc003xzp.3_Missense_Mutation_p.R306L|STAU2_uc011lfi.2_Missense_Mutation_p.R300L|STAU2_uc010lzk.3_Missense_Mutation_p.R306L|STAU2_uc010lzl.1_Missense_Mutation_p.R166L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	338	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CACAAATTCTCGACGTCGAGG	0.433000													4	80					0	0	1	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391102	50391102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:50391102C>A	uc003dal.3	+	3	806	c.596C>A	c.(595-597)cCt>cAt	p.P199H	NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dam.3_Missense_Mutation_p.P199H	NM_007022	NP_008953	O14569	C56D2_HUMAN	Homo sapiens cytochrome b-561 domain containing 2 (CYB561D2), mRNA.	199	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTATTATGCCCTGTCCTCACC	0.567000													5	129					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163968	4163968	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:4163968C>A	uc002cvx.3	-	1	2015	c.1476G>T	c.(1474-1476)acG>acT	p.T492T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	492	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGACGGTGCCCGTGTGCACCC	0.567000													7	208					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172257	94172257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:94172257C>A	uc022bjt.1	-	0	760	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	NFIL3_uc004arh.3_Missense_Mutation_p.G254W	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	254					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGAGTACCCAGAGAAAGAA	0.498000													6	143					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277259	95277259	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:95277259C>A	uc011lty.2	-	3	895	c.708G>T	c.(706-708)caG>caT	p.Q236H	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.Q214H|ECM2_uc004asg.3_Missense_Mutation_p.Q214H	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	236					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAAGTTGCCCCTGATTTCTAG	0.498000													9	299					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197009754	197009754	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:197009754C>A	uc001gtt.1	-	10	1894	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	617	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGTATCTCCTCTACAAATAAA	0.308000													5	55					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124663855	124663855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124663855C>A	uc003yqs.1	-	0	1336	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	438										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATGTCCTCTCCTCCAAAGAGA	0.542000													6	146					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179268986	179268986	+	Nonsense_Mutation	SNP	C	C	A	rs143263592		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:179268986C>A	uc003mla.3	-	4	414	c.370G>T	c.(370-372)Gga>Tga	p.G124*	C5orf45_uc003mky.2_Nonsense_Mutation_p.G121*|C5orf45_uc011dgt.1_Nonsense_Mutation_p.G124*|C5orf45_uc011dgu.1_Nonsense_Mutation_p.G69*|C5orf45_uc003mlc.3_Nonsense_Mutation_p.G69*|C5orf45_uc003mlb.3_5'UTR|C5orf45_uc021yjh.1_5'Flank	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	124										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AAACACACTCCTGTTCCTTCC	0.502000													10	398					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088619	56088619	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:56088619G>T	uc001shh.3	-	14	2371	c.2151C>A	c.(2149-2151)ctC>ctA	p.L717L	ITGA7_uc001shg.3_Silent_p.L713L|ITGA7_uc010sps.2_Silent_p.L620L|ITGA7_uc009znw.3_Intron|ITGA7_uc009znx.3_Silent_p.L594L	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	757					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATGACCAGGAGCTGGGCTT	0.657000													4	50					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976882	10976882	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:10976882C>A	uc003bvz.3	+	12	1777	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	581					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P581P(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGACACTGCCCGAGGTGAGAC	0.652000													5	121					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60966501	60966501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:60966501C>A	uc002ycv.2	-	8	1107	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	367					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCATCTCCCGCTTTAAGCT	0.642000													5	134					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49432236	49432236	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:49432236G>T	uc001rta.4	-	33	8903	c.8903C>A	c.(8902-8904)cCg>cAg	p.P2968Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2968	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGTGCTCGACGGGGGCCGGTT	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			5	123					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415021	43415021	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:43415021C>A	uc003ouy.1	+	16	3795	c.3580C>A	c.(3580-3582)Ctg>Atg	p.L1194M	ABCC10_uc003ouz.1_Missense_Mutation_p.L1166M|ABCC10_uc010jyo.1_Missense_Mutation_p.L300M	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1194	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCCCTGTCCCTGACGGGCCT	0.637000													7	135					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912929	26912929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:26912929C>A	uc002hbq.3	-	6	1785	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	565					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.R564M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTTGCCTCCTCCCTTTCTGCT	0.493000													7	252					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98701313	98701313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:98701313G>T	uc003yhz.3	+	4	1121	c.793G>T	c.(793-795)Gga>Tga	p.G265*	MTDH_uc010mbf.3_5'Flank	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	265					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ATCTGGAAAAGGAGATTCTAC	0.299000													6	125					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11615894	11615894	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:11615894C>A	uc011kxc.1	+	5	1699	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GATA4_uc003wub.1_Silent_p.P207P|GATA4_uc003wuc.2_Silent_p.P413P|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	413					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P413P(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCGTCTCCCGTCAGCCAGT	0.582000													5	96					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221138	8221138	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:8221138C>A	uc003gkv.4	+	8	1094	c.993C>A	c.(991-993)ctC>ctA	p.L331L	SH3TC1_uc003gkw.4_Silent_p.L255L|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	331	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTGGCGACCTCATCGAGATCC	0.672000													5	76					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110250242	110250242	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:110250242G>T	uc004bdh.3	-	2	1027	c.406C>A	c.(406-408)Ccc>Acc	p.P136T	KLF4_uc004bdf.2_Missense_Mutation_p.P95T|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P145T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	145	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CAGGTGGAGGGCGCGCTGGCA	0.721000													3	11					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605G>T	uc003qxp.3	+	3	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_uc003qxo.1_Missense_Mutation_p.D662Y|FAM120B_uc011ehd.2_5'UTR|MIR4644_uc021zip.1_5'Flank	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	662					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483000													9	83					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10439413	10439413	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:10439413G>T	uc002moa.3	-	2	792	c.712C>A	c.(712-714)Cgc>Agc	p.R238S		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	221	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAGGCAGCGGGAGTGGAGA	0.672000													3	28					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40761157	40761157	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:40761157G>T	uc002onf.3	-	3	494	c.195C>A	c.(193-195)acC>acA	p.T65T	AKT2_uc010egs.3_Silent_p.T65T|AKT2_uc010xvj.2_Silent_p.T3T|AKT2_uc010egt.3_Silent_p.T3T|AKT2_uc010egu.2_Silent_p.T3T|AKT2_uc010xvk.1_Silent_p.T65T	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	65	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCGGCCTCTCGGTCTTCATCA	0.607000			A		"""ovarian, pancreatic """								5	129					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943427	17943427	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:17943427C>A	uc002nhn.4	-	18	2681	c.2581G>T	c.(2581-2583)Ggg>Tgg	p.G861W	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.G861W	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	861	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S860S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGGTCTGGCCCGCTGTGCTGC	0.582000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								4	92					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:128973908G>A	uc001lju.1	-	0	793	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.T251M|FAM196A_uc001ljv.1_Missense_Mutation_p.T251M|FAM196A_uc009yap.1_Missense_Mutation_p.T251M	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657000													6	41					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599443	29599443	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:29599443G>T	uc001usl.4	+	0	696	c.638G>T	c.(637-639)cGg>cTg	p.R213L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	203						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.Q212R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCGACTCCCGGGAAGCACGG	0.602000													4	76					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	uc003jdl.3	+	4	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_uc003jdk.1_Missense_Mutation_p.M256I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M256I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468000													37	190					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8551064	8551064	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:8551064G>T	uc010dwe.3	+	13	1832	c.1752G>T	c.(1750-1752)atG>atT	p.M584I	HNRNPM_uc010xke.1_Missense_Mutation_p.M530I|HNRNPM_uc010dwd.3_Missense_Mutation_p.M545I|HNRNPM_uc002mka.3_Missense_Mutation_p.M449I|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	584	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAGCGCATGGGTGCCAACA	0.721000													5	98					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	uc001cvf.2	-	4	568_569	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_uc010ont.2_Frame_Shift_Del_p.L99fs	NM_002370	NP_002361	P61326	MGN_HUMAN	Homo sapiens mago-nashi homolog, proliferation-associated (Drosophila) (MAGOH), mRNA.	136					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	RNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376													8	34	---	---	---	---					
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	uc003bzl.3	-	3	477_478	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_uc011avl.2_Frame_Shift_Ins_p.S92fs|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	121					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579													16	261	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	uc003jgs.1	-	9	1747	c.1578delA	c.(1576-1578)gaafs	p.E526fs	CDH9_uc011cnv.1_Frame_Shift_Del_p.E119fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313													33	171	---	---	---	---					
DUSP13	51207	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	uc001jwr.3	-	2	361_362	c.298_299insTT	c.(298-300)tatfs	p.Y100fs	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Frame_Shift_Ins_p.Y193fs|DUSP13_uc001jww.3_Frame_Shift_Ins_p.Y150fs|DUSP13_uc009xrs.3_Frame_Shift_Ins_p.Y193fs|DUSP13_uc001jwt.3_Frame_Shift_Ins_p.Y193fs|DUSP13_uc001jwv.3_Frame_Shift_Ins_p.Y100fs	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	91	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559													35	179	---	---	---	---					
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:63739297delT	uc002jfl.3	-	22	2715	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_uc010deo.3_Intron|CEP112_uc002jfm.3_Frame_Shift_Del_p.K832fs|CEP112_uc010dep.2_Frame_Shift_Del_p.K790fs|CEP112_uc002jfk.3_Frame_Shift_Del_p.K88fs	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	832						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408													40	152	---	---	---	---					
