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
CDK5RAP1	51654	broad.mit.edu	37	20	31962020	31962020	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:31962020T>G	ENST00000357886.4	-	10	1303		c.e10-2		CDK5RAP1_ENST00000477105.1_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGCAGAACCTGATGAAACAG	0.463000													27	155					0	0	0.021523	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838794	37838794	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:37838794C>G	ENST00000327441.7	+	11	1367	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270V|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270V|MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301V|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120V|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301V|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270V	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301								p.L301V(1)|p.L301>?(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CATGAGACATCTGACTGCTGA	0.463000													27	52					0	0	0.005443	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833686	101833686	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:101833686A>T	ENST00000263468.8	+	6	2190	c.1920A>T	c.(1918-1920)gaA>gaT	p.E640D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E441D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	640							protein binding	p.E640D(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCAATATAGAAAACAATGCTG	0.348000													13	78					0	0	0.016723	0	0
CAP2	10486	broad.mit.edu	37	6	17539634	17539634	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:17539634T>C	ENST00000229922.2	+	8	1303	c.771T>C	c.(769-771)tcT>tcC	p.S257S	CAP2_ENST00000378990.2_Silent_p.S231S|CAP2_ENST00000489374.1_Silent_p.S145S|CAP2_ENST00000465994.1_Silent_p.S193S|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	257					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.S257S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGGAATCTTCTCCTTCACGCT	0.522000													6	117					0	0	0.001168	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107259	120107259	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107259T>C	ENST00000307128.5	+	6	912	c.699T>C	c.(697-699)aaT>aaC	p.N233N		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	233							protein phosphatase 2B binding	p.N233N(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGTCCTTTAATAGGACTCCTA	0.393000													22	72					0	0	0.014323	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88257814	88257814	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:88257814T>C	ENST00000357081.3	-	13	1374	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	AGTPBP1_ENST00000376083.3_Silent_p.Q370Q|AGTPBP1_ENST00000376109.3_Silent_p.Q422Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Silent_p.Q248Q			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	410					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.Q370Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTCCCGGTTCTTGCTGGGGTT	0.294000													19	78					0	0	0.006122	0	0
ADAM23	8745	broad.mit.edu	37	2	207436497	207436497	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:207436497C>A	ENST00000264377.3	+	17	1941	c.1613C>A	c.(1612-1614)gCt>gAt	p.A538D	ADAM23_ENST00000374416.1_Missense_Mutation_p.A538D|ADAM23_ENST00000374415.3_Missense_Mutation_p.A538D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	538	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A538D(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCAACGGGGCTCACTGCAGC	0.443000													14	124					1.99824e-07	2.09571e-07	0.004990	1	0
VIPR1	7433	broad.mit.edu	37	3	42577695	42577695	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:42577695G>T	ENST00000433647.1	+	14	1797	c.1173G>T	c.(1171-1173)acG>acT	p.T391T	VIPR1_ENST00000325123.4_Silent_p.T432T|VIPR1_ENST00000543411.1_Silent_p.T384T|VIPR1_ENST00000438259.2_Silent_p.T222T	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	432					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.T432T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CGTGCAGCACGCAGGTTTCCA	0.692000													4	15					0.00909568	0.00926811	0.009096	1	0
NKRF	55922	broad.mit.edu	37	X	118723319	118723319	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:118723319T>C	ENST00000371527.1	-	2	2721	c.2069A>G	c.(2068-2070)aAt>aGt	p.N690S	NKRF_ENST00000542113.1_Missense_Mutation_p.N705S|NKRF_ENST00000304449.5_Missense_Mutation_p.N690S|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	690					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.N690S(1)|p.N705S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AAGATCTCAATTTGCTTGAGG	0.383000													48	25					0	0	0.014410	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797169	49797169	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:49797169G>A	ENST00000454748.3	-	9	1734	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	SLC6A16_ENST00000335875.4_Silent_p.S511S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	511						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.S511S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTATTGCGCTGCTCAGCCCCA	0.483000													87	176					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48284188	48284188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:48284188G>A	ENST00000435803.1	+	11	1302	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	426					transport	integral to membrane	ATP binding|ATPase activity	p.W426*(1)|p.W371*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCATCTGTGGAAATTGCAAA	0.393000													6	47					0	0	0.001168	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107338	120107338	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107338G>C	ENST00000307128.5	+	6	991	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	260							protein phosphatase 2B binding	p.E260Q(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACTGTACCAGAATCAGAAGA	0.383000													14	48					0	0	0.020292	0	0
ARID1B	57492	broad.mit.edu	37	6	157521944	157521944	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:157521944C>G	ENST00000346085.5	+	18	4217	c.4216C>G	c.(4216-4218)Cag>Gag	p.Q1406E	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1388E|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1446E|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1393E	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1393					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q1406E(1)|p.Q1388E(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGTACAACCAGTATGGAGG	0.632000													20	108					0	0	0.010504	0	0
SCEL	8796	broad.mit.edu	37	13	78178541	78178541	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:78178541A>G	ENST00000377246.3	+	18	1173	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000349847.3_Missense_Mutation_p.N383S|SCEL_ENST00000535157.1_Intron	NM_003843.3	NP_003834.3	O95171	SCEL_HUMAN	sciellin	383	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.N383S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAATAAAAATATTACGAGG	0.333000													83	182					0	0	0.014410	0	0
OR51A4	401666	broad.mit.edu	37	11	4967692	4967692	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4967692A>G	ENST00000380373.2	-	1	664	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.428000													18	79					0	0	0.021523	0	0
LAMA3	3909	broad.mit.edu	37	18	21437915	21437915	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437915G>A	ENST00000313654.9	+	33	4485	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1415E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1415	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1415E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGAGCCAGGAGTGTGTGAC	0.562000													57	71					0	0	0.014410	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545795	43545795	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:43545795G>C	ENST00000430334.3	-	5	1221	c.1088C>G	c.(1087-1089)gCa>gGa	p.A363G	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A274G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	363					intracellular signal transduction	cytoplasm	metal ion binding	p.A363G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCCAGAGGCTGCCTGGGCAGG	0.642000													8	43					0	0	0.006214	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835714	12835714	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:12835714C>T	ENST00000357726.4	+	2	343	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	106								p.R106W(1)		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)		GTTGGACTTGCGGAATGTGGA	0.512000													51	333					0	0	0.014410	0	0
FSIP1	161835	broad.mit.edu	37	15	39910371	39910371	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:39910371T>C	ENST00000350221.3	-	11	1473	c.1264A>G	c.(1264-1266)Atc>Gtc	p.I422V		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	422								p.I422V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGTTTAATGATGGATTTTTGT	0.368000													53	65					0	0	0.014410	0	0
NBEA	26960	broad.mit.edu	37	13	35923273	35923273	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:35923273A>G	ENST00000540320.1	+	37	6466	c.5932A>G	c.(5932-5934)Ata>Gta	p.I1978V	NBEA_ENST00000379939.2_Missense_Mutation_p.I1975V|NBEA_ENST00000400445.3_Missense_Mutation_p.I1978V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1978V			Q8NFP9	NBEA_HUMAN	neurobeachin	1978						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.I1978V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGGACCATATAGTCCGTGT	0.348000													10	51					0	0	0.010729	0	0
GPR133	283383	broad.mit.edu	37	12	131487771	131487771	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:131487771C>T	ENST00000261654.5	+	10	1627	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	GPR133_ENST00000535015.1_Silent_p.T388T|GPR133_ENST00000376682.4_Silent_p.T42T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	356					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T356T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTATTGACACCGTCATGGGCC	0.602000													52	167					0	0	0.014410	0	0
PER1	5187	broad.mit.edu	37	17	8046123	8046123	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:8046123C>T	ENST00000317276.4	-	20	3340	c.3103G>A	c.(3103-3105)Gca>Aca	p.A1035T	PER1_ENST00000581082.1_Missense_Mutation_p.A1012T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1035	Ser-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.A1035T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGAAAGTGCGTCCTGATTG	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					8	26					0	0	0.004482	0	0
CD27	939	broad.mit.edu	37	12	6554304	6554304	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:6554304C>G	ENST00000266557.3	+	1	272	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.T14>?(1)|p.L15V(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TCTGGGGACCCTGGTGGGGCT	0.632000													10	22					0	0	0.006214	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54745612	54745612	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:54745612T>A	ENST00000355221.3	-	3	707	c.148A>T	c.(148-150)Att>Ttt	p.I50F	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.I10F	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	50					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.I50F(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AACCTCTGAATAAACTCACAA	0.368000													79	77					0	0	0.014410	0	0
LST3	0	broad.mit.edu	37	12	21242857	21242857	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:21242857C>T	ENST00000540229.1	+	16	2129	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000421593.2_Silent_p.G580G|SLCO1B7_ENST00000554957.1_Silent_p.G627G|SLCO1B3_ENST00000553473.1_Silent_p.G688G|RP11-125O5.2_ENST00000590779.1_Intron														p.G580G(1)									CCTTCTTCGGCTTGAAGGTAG	0.299000													15	48					0	0	0.003163	0	0
NSD1	64324	broad.mit.edu	37	5	176562709	176562709	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:176562709G>A	ENST00000439151.2	+	2	650	c.605G>A	c.(604-606)gGt>gAt	p.G202D	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G202D|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.G202D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGAATGGTGTAAAAGTG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			58	100					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137814383	137814383	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:137814383G>A	ENST00000409968.1	+	3	711	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q					thrombospondin, type I, domain containing 7B									p.R147Q(1)|p.R178Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGTCCCCGGGATTGTGTA	0.498000													48	324					0	0	0.014410	0	0
CAPZB	832	broad.mit.edu	37	1	19670914	19670914	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:19670914T>C	ENST00000401084.2	-	8	802	c.669A>G	c.(667-669)aaA>aaG	p.K223K	CAPZB_ENST00000264202.6_Silent_p.K223K|CAPZB_ENST00000433834.1_Silent_p.K252K|CAPZB_ENST00000375142.1_Silent_p.K223K|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000375144.1_Silent_p.K211K	NM_001282162.1|NM_004930.3	NP_001269091.1|NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	223					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	p.K223K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TACTTCTGATTTTATTTTCCA	0.517000											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	112					0	0	0.012213	0	0
SLC5A8	160728	broad.mit.edu	37	12	101595946	101595946	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:101595946A>T	ENST00000536262.2	-	3	1023	c.465T>A	c.(463-465)aaT>aaA	p.N155K		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	155					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.N155K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTACCTTGATTCAAAGCCA	0.388000													29	47					0	0	0.012213	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281971	71281971	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:71281971G>A	ENST00000335793.3	-	2	1063	c.669C>T	c.(667-669)agC>agT	p.S223S	CDC42EP4_ENST00000439510.2_Silent_p.S153S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	223					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	p.S223S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGTCCATGATGCTGAGGACGT	0.657000													70	103					0	0	0.014410	0	0
ZNF317	57693	broad.mit.edu	37	19	9271247	9271247	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:9271247A>T	ENST00000247956.6	+	7	1231	c.926A>T	c.(925-927)gAt>gTt	p.D309V	ZNF317_ENST00000360385.3_Missense_Mutation_p.D277V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D309V(1)|p.D309>?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TACAAGTGTGATCAGTGCGGG	0.572000													39	78					0	0	0.009718	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205902	36205902	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:36205902A>C	ENST00000392197.2	+	3	692	c.374A>C	c.(373-375)aAg>aCg	p.K125T	ZBTB32_ENST00000262630.3_Missense_Mutation_p.K125T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	125					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.K125T(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGAAGAAACATCAG	0.577000													20	88					0	0	0.007413	0	0
RERE	473	broad.mit.edu	37	1	8601355	8601355	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:8601355A>C	ENST00000337907.3	-	8	1382	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	RERE_ENST00000400908.2_Missense_Mutation_p.F250V|RERE_ENST00000400907.2_Missense_Mutation_p.F250V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	250	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F250V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCAGAAAAATGGGAGATG	0.398000													60	64					0	0	0.014410	0	0
CTBP2	1488	broad.mit.edu	37	10	126727575	126727575	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:126727575T>A	ENST00000337195.5	-	3	448	c.49A>T	c.(49-51)Att>Ttt	p.I17F	CTBP2_ENST00000531469.1_Missense_Mutation_p.I17F|CTBP2_ENST00000411419.2_Missense_Mutation_p.I17F|CTBP2_ENST00000494626.2_Missense_Mutation_p.I17F|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	17					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.I17F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTCACAAATTCTGTCCAAT	0.468000													20	96					0	0	0.010504	0	0
TRPS1	7227	broad.mit.edu	37	8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:116632282C>T	ENST00000395715.3	-	3	620	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TRPS1_ENST00000519076.1_Missense_Mutation_p.V2I|TRPS1_ENST00000519674.1_Missense_Mutation_p.V2I|TRPS1_ENST00000520276.1_Missense_Mutation_p.V6I|TRPS1_ENST00000220888.5_Missense_Mutation_p.V2I	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	2					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V15I(1)|p.V2I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408000									Langer-Giedion syndrome				14	87					0	0	0.020292	0	0
DYSF	8291	broad.mit.edu	37	2	71795448	71795448	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:71795448G>T	ENST00000258104.3	+	26	3067	c.2790G>T	c.(2788-2790)tgG>tgT	p.W930C	DYSF_ENST00000410020.3_Missense_Mutation_p.W948C|DYSF_ENST00000409651.1_Missense_Mutation_p.W962C|DYSF_ENST00000413539.2_Missense_Mutation_p.W961C|DYSF_ENST00000409744.1_Missense_Mutation_p.W917C|DYSF_ENST00000409366.1_Missense_Mutation_p.W931C|DYSF_ENST00000429174.2_Missense_Mutation_p.W930C|DYSF_ENST00000394120.2_Missense_Mutation_p.W931C|DYSF_ENST00000409762.1_Missense_Mutation_p.W947C|DYSF_ENST00000410041.1_Missense_Mutation_p.W948C|DYSF_ENST00000409582.3_Missense_Mutation_p.W947C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	930			W -> C (in LGMD2B; uncetain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W948C(1)|p.W930C(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGGAGATTGGTTCGTGTGTC	0.647000													234	486					2.56588e-125	2.87326e-125	0.014410	1	0
COL6A6	131873	broad.mit.edu	37	3	130292969	130292969	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:130292969C>A	ENST00000358511.6	+	7	3178	c.3147C>A	c.(3145-3147)caC>caA	p.H1049Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.H1049Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1049	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.H1049Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATACCTATCACCCGGAGTTTC	0.433000													24	56					1.10513e-12	1.17046e-12	0.014323	1	0
ACO2	50	broad.mit.edu	37	22	41865168	41865168	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41865168A>G	ENST00000396512.3	+	1	35	c.18A>G	c.(16-18)ctA>ctG	p.L6L	ACO2_ENST00000216254.4_Silent_p.L6L			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	6					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.L6L(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTACAGCCTACTGGTGACTC	0.647000													22	108					0	0	0.018920	0	0
MGAT1	4245	broad.mit.edu	37	5	180219243	180219243	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180219243G>T	ENST00000446023.2	-	3	1479	c.729C>A	c.(727-729)gaC>gaA	p.D243E	MGAT1_ENST00000307826.4_Missense_Mutation_p.D243E|MGAT1_ENST00000427865.2_Missense_Mutation_p.D243E|MGAT1_ENST00000393340.3_Missense_Mutation_p.D243E|MGAT1_ENST00000333055.3_Missense_Mutation_p.D243E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	243					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.D243E(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGCCGTTGTCATTCCAGG	0.642000													7	140					8.12818e-05	8.40173e-05	0.001984	1	0
FAM126A	84668	broad.mit.edu	37	7	22985595	22985595	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:22985595T>C	ENST00000432176.2	-	11	1411	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	393						cytoplasm|membrane	signal transducer activity	p.E393E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TAGTTTCTTTTTCTTTTCCTC	0.418000													113	195					0	0	0.014410	0	0
GPX6	257202	broad.mit.edu	37	6	28474199	28474199	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:28474199A>C	ENST00000361902.1	-	3	298	c.249T>G	c.(247-249)aaT>aaG	p.N83K	GPX6_ENST00000474923.1_Missense_Mutation_p.N83K|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	83					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.N83K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CCTGTAGTGCATTCAGTTCTG	0.443000													20	119					0	0	0.012319	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260767	42260767	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:42260767G>A	ENST00000199764.6	+	2	542	c.324G>A	c.(322-324)ctG>ctA	p.L108L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	108	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.L108L(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CATCCCTGCTGATCCAGAACG	0.458000													166	382					0	0	0.014410	0	0
HOXB4	3214	broad.mit.edu	37	17	46654171	46654171	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:46654171C>A	ENST00000332503.5	-	2	2460	c.669G>T	c.(667-669)ttG>ttT	p.L223F	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L223F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TGGTGTTGGGCAACTTGTGGT	0.677000													66	121					9.65139e-37	1.0587e-36	0.014410	1	0
LRP10	26020	broad.mit.edu	37	14	23344694	23344694	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:23344694C>T	ENST00000359591.4	+	5	1228	c.537C>T	c.(535-537)ttC>ttT	p.F179F	LRP10_ENST00000546834.1_Silent_p.F179F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	179					endocytosis	coated pit|integral to membrane		p.F179F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGACCCCTTCCCTGGCCTGA	0.582000													71	191					0	0	0.014410	0	0
ERCC2	2068	broad.mit.edu	37	19	45856352	45856352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:45856352C>G	ENST00000391945.4	-	19	1897	c.1820G>C	c.(1819-1821)gGa>gCa	p.G607A	ERCC2_ENST00000391944.3_Missense_Mutation_p.G529A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	607	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.G607A(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAAGTCGATTCCCTCGGACAC	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				43	109					0	0	0.014410	0	0
SIM1	6492	broad.mit.edu	37	6	100868688	100868688	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:100868688G>C	ENST00000369208.3	-	10	1927	c.1145C>G	c.(1144-1146)tCc>tGc	p.S382C	SIM1_ENST00000262901.4_Missense_Mutation_p.S382C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	382	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S382C(1)|p.S382*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGAAGTCCTGGATTTTGACTT	0.473000													47	82					0	0	0.014410	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	107					0	0	0.010504	0	0
TPRA1	131601	broad.mit.edu	37	3	127294260	127294260	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:127294260G>A	ENST00000355552.3	-	9	1135	c.759C>T	c.(757-759)atC>atT	p.I253I	TPRA1_ENST00000450633.2_Silent_p.I253I|TPRA1_ENST00000489960.1_Silent_p.I253I|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000465915.1_5'UTR	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	253					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	p.I253I(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCCCCTCGATGATGTCGAAGC	0.682000											OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0.003080	0	0
PNPT1	87178	broad.mit.edu	37	2	55895071	55895071	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895071T>C	ENST00000447944.2	-	12	1085	c.999A>G	c.(997-999)ccA>ccG	p.P333P		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	333					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.P333P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTATTTCATATGGATCGGCTT	0.274000													22	61					0	0	0.010818	0	0
ACD	65057	broad.mit.edu	37	16	67692470	67692470	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67692470G>T	ENST00000219251.8	-	9	1397	c.1066C>A	c.(1066-1068)Ccc>Acc	p.P356T	ACD_ENST00000393919.4_Missense_Mutation_p.P359T	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	359	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.P356T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAACTGGGTGAGGAAGGA	0.617000													23	107					3.28513e-13	3.49655e-13	0.021523	1	0
NUP155	9631	broad.mit.edu	37	5	37293028	37293028	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37293028T>C	ENST00000231498.3	-	34	4193	c.3990A>G	c.(3988-3990)ttA>ttG	p.L1330L	NUP155_ENST00000381843.2_Silent_p.L1271L|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.L1266L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1330					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.L1330L(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTATCAATAATACATGTA	0.313000													69	137					0	0	0.014410	0	0
SELP	6403	broad.mit.edu	37	1	169578782	169578782	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:169578782A>G	ENST00000263686.6	-	8	1330	c.1293T>C	c.(1291-1293)gaT>gaC	p.D431D	SELP_ENST00000367788.2_Silent_p.D369D|SELP_ENST00000367794.2_Silent_p.D369D|SELP_ENST00000367786.2_Silent_p.D369D|SELP_ENST00000458599.2_Silent_p.D369D|SELP_ENST00000367793.2_Silent_p.D369D|SELP_ENST00000367792.2_Silent_p.D369D|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	431	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.D431D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCCAAGTTATCACACCGAA	0.488000													42	32					0	0	0.014410	0	0
INSC	387755	broad.mit.edu	37	11	15212291	15212291	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:15212291A>G	ENST00000379554.3	+	6	811	c.765A>G	c.(763-765)acA>acG	p.T255T	INSC_ENST00000530161.1_Silent_p.T208T|INSC_ENST00000424273.1_Silent_p.T208T|INSC_ENST00000525218.1_Silent_p.T208T|INSC_ENST00000528567.1_Silent_p.T208T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.T208T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	255					cell differentiation|nervous system development	cytoplasm	binding	p.T255T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCTACACCACAGAGTCCACCA	0.507000													107	150					0	0	0.014410	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:837498C>T	ENST00000283441.8	-	6	1265	c.882G>A	c.(880-882)atG>atA	p.M294I	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	294						integral to membrane	acyltransferase activity|zinc ion binding	p.M294I(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483000													53	307					0	0	0.014410	0	0
ZNF813	126017	broad.mit.edu	37	19	53994029	53994029	+	Silent	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:53994029T>G	ENST00000396403.4	+	4	671	c.543T>G	c.(541-543)tcT>tcG	p.S181S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S181S(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGAATTTCTTGTAGGCCCA	0.388000													44	248					0	0	0.011902	0	0
TYK2	7297	broad.mit.edu	37	19	10475635	10475635	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:10475635G>A	ENST00000525621.1	-	8	1582	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	TYK2_ENST00000264818.6_Silent_p.D367D|TYK2_ENST00000529370.1_Silent_p.D367D|TYK2_ENST00000524462.1_Silent_p.D182D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	367	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.D367D(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCGCGGCCTGTCTGCCGGCT	0.617000													21	50					0	0	0.014323	0	0
OR2V2	285659	broad.mit.edu	37	5	180581946	180581946	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180581946G>C	ENST00000328275.1	+	1	4	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E2Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGCCATGGAGACGTGGGT	0.493000													72	109					0	0	0.014410	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327289	133327289	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:133327289T>C	ENST00000539605.1	-	2	7285	c.601A>G	c.(601-603)Acg>Gcg	p.T201A	ANKLE2_ENST00000357997.5_Missense_Mutation_p.T263A|ANKLE2_ENST00000337516.5_Missense_Mutation_p.T263A			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	263						cytoplasm|integral to membrane|nuclear envelope		p.T263A(1)		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)		GGTAAGGACGTTTTGCTTGGA	0.423000													46	40					0	0	0.014410	0	0
PRDM4	11108	broad.mit.edu	37	12	108140192	108140192	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:108140192A>G	ENST00000228437.5	-	6	1595	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	379					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L379P(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGGTCACACAGAGTACACCC	0.453000													3	104					0	0	0.014758	0	0
VAC14	55697	broad.mit.edu	37	16	70834774	70834774	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:70834774G>T	ENST00000261776.5	-	1	290	c.30C>A	c.(28-30)ctC>ctA	p.L10L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	10					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.L10L(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGTTAGGCGTGAGCGGCGCGA	0.667000													13	109					0.00244969	0.00250802	0.020292	1	0
CENPT	80152	broad.mit.edu	37	16	67863976	67863976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67863976G>A	ENST00000562787.1	-	12	1426	c.878C>T	c.(877-879)gCc>gTc	p.A293V	CENPT_ENST00000440851.2_Missense_Mutation_p.A293V|CENPT_ENST00000219172.3_Missense_Mutation_p.A293V|CENPT_ENST00000564817.1_Missense_Mutation_p.A293V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	293					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.A293V(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAAACTGGGCTGGTTTCCC	0.567000													32	36					0	0	0.009535	0	0
KAT6A	7994	broad.mit.edu	37	8	41794882	41794882	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:41794882T>C	ENST00000396930.3	-	17	3787	c.3244A>G	c.(3244-3246)Aga>Gga	p.R1082G	KAT6A_ENST00000406337.1_Missense_Mutation_p.R1082G|KAT6A_ENST00000265713.2_Missense_Mutation_p.R1082G	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1082					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R1082G(1)									AAGTATTCTCTAGGGAAAAGT	0.428000													43	59					0	0	0.008740	0	0
POFUT1	23509	broad.mit.edu	37	20	30803206	30803206	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:30803206T>C	ENST00000375749.3	+	3	443	c.381T>C	c.(379-381)ttT>ttC	p.F127F	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Silent_p.F127F|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	127					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	p.F127F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATACTGCTTTGAGGTGGCAG	0.602000													85	180					0	0	0.014410	0	0
KCNA4	3739	broad.mit.edu	37	11	30033503	30033503	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:30033503C>T	ENST00000328224.6	-	2	1956	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	241						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.L241L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGGCCTCTTCAGGCGGCCTC	0.498000													61	99					0	0	0.014410	0	0
CMTR2	55783	broad.mit.edu	37	16	71319027	71319027	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:71319027A>C	ENST00000338099.5	-	3	1133	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CMTR2_ENST00000434935.2_Missense_Mutation_p.L266R					cap methyltransferase 2	266								p.L266R(1)									ACCGTTTCCAAGAGTGGTCAG	0.398000													29	60					0	0	0.008361	0	0
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:40192632C>T	ENST00000302541.6	+	4	768	c.426C>T	c.(424-426)taC>taT	p.Y142Y	MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000444716.1_Silent_p.Y142Y|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.Y142Y	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport		actin binding|zinc ion binding	p.Y142Y(1)|p.Y142*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAACCTGTACAGGAAGCACC	0.552000													8	24					0	0	0.010729	0	0
ARMC3	219681	broad.mit.edu	37	10	23290965	23290965	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:23290965A>G	ENST00000298032.5	+	12	1627	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D	ARMC3_ENST00000409983.3_Missense_Mutation_p.N515D|ARMC3_ENST00000409049.3_Missense_Mutation_p.N515D|ARMC3_ENST00000376528.4_Missense_Mutation_p.N252D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	515							binding	p.N515D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGACGGCCAATGAATTATG	0.532000													13	23					0	0	0.020292	0	0
POLR3A	11128	broad.mit.edu	37	10	79769683	79769683	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79769683G>A	ENST00000372371.3	-	13	1846	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	570					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.S570L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACCAGTATTGAAGCAATGAT	0.453000													21	50					0	0	0.008871	0	0
TRAF5	7188	broad.mit.edu	37	1	211529792	211529792	+	Silent	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:211529792T>A	ENST00000336184.2	+	4	420	c.360T>A	c.(358-360)gtT>gtA	p.V120V	TRAF5_ENST00000367004.3_Silent_p.V120V|TRAF5_ENST00000427925.2_Silent_p.V120V|TRAF5_ENST00000261464.5_Silent_p.V120V|TRAF5_ENST00000462410.1_3'UTR	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	120			V -> G (in dbSNP:rs3946808).		apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V120V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ATGCCAAGGTTATTCTGGGCC	0.378000													21	154					0	0	0.014323	0	0
PNPLA7	375775	broad.mit.edu	37	9	140444633	140444633	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:140444633T>C	ENST00000406427.1	-	1	353	c.17A>G	c.(16-18)gAt>gGt	p.D6G	PNPLA7_ENST00000277531.4_Missense_Mutation_p.D6G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	6					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.D6G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGCTGTCATCTTTCTCTTC	0.547000													30	169					0	0	0.013726	0	0
PAH	5053	broad.mit.edu	37	12	103249082	103249082	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:103249082T>A	ENST00000553106.1	-	6	1010	c.538A>T	c.(538-540)Atg>Ttg	p.M180L	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.M175L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	180					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.M180L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCTTCCTCCATGTATTCCACT	0.468000													13	85					0	0	0.003163	0	0
KIF12	113220	broad.mit.edu	37	9	116856478	116856478	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:116856478T>C	ENST00000374118.3	-	10	1119	c.882A>G	c.(880-882)ctA>ctG	p.L294L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	427					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L294L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCTCATTCTCTAGCATGAACT	0.627000													19	90					0	0	0.010504	0	0
IGF1R	3480	broad.mit.edu	37	15	99250976	99250976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:99250976G>A	ENST00000268035.6	+	2	891	c.280G>A	c.(280-282)Gag>Aag	p.E94K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E94K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	94					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.E94K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGCTGGCCTCGAGAGCCTCGG	0.577000													7	62					0	0	0.001984	0	0
PGM2	55276	broad.mit.edu	37	4	37850207	37850207	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:37850207G>A	ENST00000381967.4	+	11	1447	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	PGM2_ENST00000537241.1_Silent_p.E289E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	449					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.E449E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAAGTGCAGAGTTGGCTAGCT	0.408000													58	85					0	0	0.014410	0	0
GLI3	2737	broad.mit.edu	37	7	42004980	42004980	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:42004980G>T	ENST00000395925.3	-	15	3775	c.3691C>A	c.(3691-3693)Ctc>Atc	p.L1231I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1231					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1231I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTTGTGGAGCATCAAGTGC	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				41	94					1.41504e-22	1.52116e-22	0.011902	1	0
CTU1	90353	broad.mit.edu	37	19	51607330	51607330	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:51607330T>C	ENST00000421832.2	-	2	541	c.497A>G	c.(496-498)cAc>cGc	p.H166R		NM_145232.3	NP_660275.2	Q7Z7A3	CTU1_HUMAN	cytosolic thiouridylase subunit 1	166					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding	p.H166R(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4						TGTCACGATGTGCGTGGCTCC	0.706000													10	12					0	0	0.016723	0	0
CUBN	8029	broad.mit.edu	37	10	16911845	16911845	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911845C>G	ENST00000377833.4	-	59	9309	c.9244G>C	c.(9244-9246)Gat>Cat	p.D3082H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3082	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.D3082H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATCAAAATCACTGAACCTG	0.413000													38	57					0	0	0.006999	0	0
SKIL	6498	broad.mit.edu	37	3	170079087	170079087	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:170079087C>T	ENST00000458537.3	+	1	1677	c.968C>T	c.(967-969)gCt>gTt	p.A323V	SKIL_ENST00000426052.2_Missense_Mutation_p.A303V|SKIL_ENST00000259119.4_Missense_Mutation_p.A323V|SKIL_ENST00000413427.2_Missense_Mutation_p.A323V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	323					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.A323V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGAATCAGCTAAATGGCAT	0.398000													34	196					0	0	0.005524	0	0
COPB1	1315	broad.mit.edu	37	11	14490389	14490389	+	Missense_Mutation	SNP	C	C	A	rs139561241	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:14490389C>A	ENST00000249923.3	-	16	2283	c.1983G>T	c.(1981-1983)agG>agT	p.R661S	COPB1_ENST00000439561.2_Missense_Mutation_p.R661S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	661					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.R661S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGTCACATTCCTCTTTTCAG	0.378000													47	181					1.66251e-12	1.75215e-12	0.014410	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54649078	54649078	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:54649078A>T	ENST00000230640.5	+	14	1768	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.D505V(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CGCAAATTTGATGGGAAGGAT	0.333000													21	134					0	0	0.014323	0	0
SIM1	6492	broad.mit.edu	37	6	100868687	100868687	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:100868687G>T	ENST00000369208.3	-	10	1928	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S	SIM1_ENST00000262901.4_Silent_p.S382S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	382	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S382S(1)|p.S382*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGAAGTCCTGGATTTTGACT	0.468000													47	84					3.21987e-24	3.47876e-24	0.014410	1	0
MYBPC3	4607	broad.mit.edu	37	11	47359095	47359095	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:47359095G>C	ENST00000545968.1	-	25	2503	c.2449C>G	c.(2449-2451)Cgg>Ggg	p.R817G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R816G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R817G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	816	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R817G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCATCCACCGGTAGCTCTTC	0.607000													9	43					0	0	0.006214	0	0
ATM	472	broad.mit.edu	37	11	108218083	108218083	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:108218083A>T	ENST00000278616.4	+	59	9047	c.8662A>T	c.(8662-8664)Ata>Tta	p.I2888L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.I2888L|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2888	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.I2888L(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTGTACATATAGATCTAGG	0.303000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			53	89					0	0	0.014410	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	rs143524950		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:7993258G>A	ENST00000377507.3	-	7	809	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	215	Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.R215W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428000													34	43					0	0	0.015359	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135				TPTE2P6_ENST00000440905.1_RNA																							TGACAGTCCATCTCTGTACGA	0.363000													3	41					0	0	0.001984	0	0
LENG8	114823	broad.mit.edu	37	19	54971986	54971986	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:54971986C>T	ENST00000326764.5	+	16	2760	c.2281C>T	c.(2281-2283)Ctg>Ttg	p.L761L	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0							protein binding	p.L761L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCAGGCCGAGCTGGCCTTCGA	0.711000													7	7					0	0	0.006214	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092032	139092032	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:139092032A>T	ENST00000354926.4	+	6	977	c.623A>T	c.(622-624)gAt>gTt	p.D208V	LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274V|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205V|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207V	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2												p.D208V(1)									CGACTGGCTGATCATTTTGGG	0.398000													24	108					0	0	0.006320	0	0
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:7079645C>T	ENST00000299481.4	+	8	2943	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.A866V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGAGTGATGCCCTGCAACAT	0.363000													49	58					0	0	0.014410	0	0
XPR1	9213	broad.mit.edu	37	1	180843064	180843064	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843064A>G	ENST00000367590.4	+	13	1992	c.1794A>G	c.(1792-1794)ccA>ccG	p.P598P	XPR1_ENST00000367589.3_Silent_p.P533P	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	598	EXS.					integral to plasma membrane	G-protein coupled receptor activity	p.P598P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTGCCCCACTTGAGGTTT	0.363000													40	37					0	0	0.007835	0	0
HEATR6	63897	broad.mit.edu	37	17	58145064	58145064	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:58145064T>C	ENST00000184956.6	-	8	985	c.969A>G	c.(967-969)ccA>ccG	p.P323P	HEATR6_ENST00000585976.1_Silent_p.P323P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	323	Poly-Lys.						binding	p.P323P(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGATTTTCTTTGGTTTTACTT	0.413000													43	99					0	0	0.014410	0	0
XPOT	11260	broad.mit.edu	37	12	64815090	64815090	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:64815090A>G	ENST00000332707.5	+	9	1448	c.919A>G	c.(919-921)Agt>Ggt	p.S307G		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	307	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.S307G(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTTAGTTGGAGTAAATTAAT	0.373000													47	166					0	0	0.013114	0	0
SAMD11	148398	broad.mit.edu	37	1	871255	871255	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:871255G>A	ENST00000342066.3	+	5	492	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	137						nucleus		p.E137K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGCAGCCTGGAGATTGGCCT	0.677000													32	33					0	0	0.013726	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148065	1148065	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1148065T>C	ENST00000379236.3	-	4	394	c.390A>G	c.(388-390)ccA>ccG	p.P130P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	130					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	p.P130P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAAGTGCCCTGGAGGGCAGG	0.697000													8	9					0	0	0.008291	0	0
ZNF253	56242	broad.mit.edu	37	19	20003518	20003518	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:20003518C>G	ENST00000589717.1	+	4	1554	c.1462C>G	c.(1462-1464)Ctt>Gtt	p.L488V	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L412V	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L488V(1)|p.L460V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGACAGATCTTTTAAATGT	0.358000													3	121					0	0	0.004672	0	0
C19orf54	284325	broad.mit.edu	37	19	41248527	41248527	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:41248527G>A	ENST00000378313.2	-	6	986	c.867C>T	c.(865-867)tcC>tcT	p.S289S	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000339153.3_Silent_p.S117S|C19orf54_ENST00000598729.1_Silent_p.S117S	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	289								p.P148L(1)|p.S289S(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCCCTGCTTGGACAGCAGGT	0.657000													10	34					0	0	0.008291	0	0
DLG5	9231	broad.mit.edu	37	10	79567584	79567584	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79567584T>G	ENST00000372391.2	-	25	4771	c.4766A>C	c.(4765-4767)aAg>aCg	p.K1589T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1249T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1589					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.K1589T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCAGGCCCTTGGCCTTCGT	0.572000													20	129					0	0	0.016522	0	0
SLC17A5	26503	broad.mit.edu	37	6	74331540	74331540	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:74331540A>G	ENST00000355773.5	-	7	1233	c.965T>C	c.(964-966)tTc>tCc	p.F322S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	322					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	p.F322S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGAACATTGAACCTTAGGAT	0.313000													12	36					0	0	0.013537	0	0
CNOT2	4848	broad.mit.edu	37	12	70672040	70672040	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:70672040A>T	ENST00000229195.3	+	2	613	c.34A>T	c.(34-36)Aaa>Taa	p.K12*	CNOT2_ENST00000418359.3_Nonsense_Mutation_p.K12*	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.K12*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTATCTGAGAAAAGAAACTA	0.398000													38	105					0	0	0.006230	0	0
BMP8B	656	broad.mit.edu	37	1	40228856	40228856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:40228856G>A	ENST00000372827.3	-	6	1342	c.967C>T	c.(967-969)Caa>Taa	p.Q323*	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	323					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	p.Q323*(1)		endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGTAGCCTTGGGGAGCGATG	0.622000													39	142					0	0	0.007835	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:33284382G>A	ENST00000431845.2	-	2	463	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZBTB22_ENST00000418724.1_Silent_p.A104A	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A104A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTCTCAAAGGCGCCTGGGT	0.577000													52	210					0	0	0.014410	0	0
IGHG2	3501	broad.mit.edu	37	14	106110214	106110214	+	RNA	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:106110214G>T	ENST00000390545.2	-	0	403																											GACCTCAGGGGTCCGGGAGAT	0.602000													58	60					6.4685e-43	7.13193e-43	0.014410	1	0
C5orf42	65250	broad.mit.edu	37	5	37183002	37183002	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37183002C>T	ENST00000274258.7	-	26	5511	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	C5orf42_ENST00000508244.1_Missense_Mutation_p.D1761N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D1761N			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1761								p.D1761N(1)|p.D642N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATACCAGAATCACAGAGTAGC	0.413000													44	74					0	0	0.013114	0	0
TTN	7273	broad.mit.edu	37	2	179616127	179616127	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:179616127T>G	ENST00000360870.5	-	46	11222	c.11000A>C	c.(10999-11001)aAa>aCa	p.K3667T	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9512	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATCTGTTTTCTTGGCAGA	0.363000													50	106					0	0	0.014410	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39909602	39909602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39909602C>T	ENST00000425673.1	+	11	1547	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R408C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R408C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R349C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R408C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	408	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R408C(1)|p.R366C(1)|p.R349C(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCAGCGCCTCTTCTT	0.612000													86	180					0	0	0.014410	0	0
GIPR	2696	broad.mit.edu	37	19	46172841	46172841	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:46172841G>A	ENST00000590918.1	+	2	162	c.63G>A	c.(61-63)caG>caA	p.Q21Q	GIPR_ENST00000304207.8_Silent_p.Q21Q|GIPR_ENST00000263281.3_Silent_p.Q21Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	21					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		p.Q21Q(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGCTGCTCCAGAGGGCGGAGG	0.657000													6	12					0	0	0.003080	0	0
C16orf54	283897	broad.mit.edu	37	16	29756070	29756070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:29756070C>T	ENST00000329410.3	-	2	298	c.203G>A	c.(202-204)cGt>cAt	p.R68H		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	68						integral to membrane		p.R68H(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GGTGGGTGCACGGTGGCTGGG	0.677000													4	3					0	0	0.009096	0	0
EP300	2033	broad.mit.edu	37	22	41489057	41489057	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41489057A>G	ENST00000263253.7	+	1	1268	c.49A>G	c.(49-51)Aaa>Gaa	p.K17E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.K17E(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCGGCCTAAACTCTCATC	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				75	132					0	0	0.014410	0	0
CPT1B	1375	broad.mit.edu	37	22	51007850	51007850	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:51007850T>A	ENST00000360719.2	-	19	2373	c.2236A>T	c.(2236-2238)Aac>Tac	p.N746Y	CPT1B_ENST00000440709.1_Splice_Site_p.N665Y|CPT1B_ENST00000405237.3_Splice_Site_p.N746Y|CPT1B_ENST00000395650.2_Splice_Site_p.N746Y|CPT1B_ENST00000457250.1_Splice_Site_p.N712Y|CPT1B_ENST00000312108.7_Splice_Site_p.N746Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Splice_Site_p.N541Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	746					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.N746Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGCTGGGCGTTCTGTGGGAGC	0.537000													21	98					0	0	0.008871	0	0
EVI2B	2124	broad.mit.edu	37	17	29631980	29631980	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:29631980C>G	ENST00000330927.4	-	2	802	c.648G>C	c.(646-648)ttG>ttC	p.L216F	NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.L231F|EVI2B_ENST00000577894.1_Missense_Mutation_p.L216F|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	216						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.L216F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTATAGCTACCAACATAGAAG	0.343000													53	161					0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	16911660	16911660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911660C>T	ENST00000377833.4	-	59	9494	c.9429G>A	c.(9427-9429)tgG>tgA	p.W3143*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3143	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.W3143*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGACATCTTCCAGCCTTTTG	0.448000													149	201					0	0	0.014410	0	0
ZNF133	7692	broad.mit.edu	37	20	18295856	18295856	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:18295856G>T	ENST00000377671.3	+	7	917	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	ZNF133_ENST00000538547.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.D58Y|ZNF133_ENST00000316358.4_Missense_Mutation_p.D121Y|ZNF133_ENST00000535822.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.D121Y|ZNF133_ENST00000396026.3_Missense_Mutation_p.D124Y|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	121						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D120Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCAGCCTGGGGATCCGGGCCC	0.562000													79	185					3.47267e-51	3.84858e-51	0.014410	1	0
ZNF106	64397	broad.mit.edu	37	15	42731243	42731243	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:42731243C>T	ENST00000263805.4	-	8	4789	c.4463G>A	c.(4462-4464)gGc>gAc	p.G1488D	ZNF106_ENST00000565380.1_Missense_Mutation_p.G716D|ZNF106_ENST00000565611.1_Missense_Mutation_p.G673D	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106									p.G1488D(1)									TACAGGGATGCCATCTTTATA	0.358000													4	152					0	0	0.009096	0	0
CDK11B	984	broad.mit.edu	37	1	1572863	1572863	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1572863C>A	ENST00000407249.3	-	15	1485	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	CDK11B_ENST00000317673.7_Missense_Mutation_p.G494C|CDK11B_ENST00000341832.6_Missense_Mutation_p.G449C|CDK11B_ENST00000340677.5_Missense_Mutation_p.G483C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	506	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.G496C(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						ATGTTGCTGCCCACCACAATC	0.602000													5	44					3.59834e-05	3.7374e-05	0.001168	1	0
CPNE1	8904	broad.mit.edu	37	20	34214192	34214192	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:34214192T>C	ENST00000317619.3	-	18	1979	c.1585A>G	c.(1585-1587)Aag>Gag	p.K529E	CPNE1_ENST00000317677.5_Missense_Mutation_p.K534E|CPNE1_ENST00000397442.1_Missense_Mutation_p.K473E|CPNE1_ENST00000397443.1_Missense_Mutation_p.K529E|CPNE1_ENST00000352393.4_Missense_Mutation_p.K529E|CPNE1_ENST00000397446.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397445.1_Missense_Mutation_p.K529E			Q99829	CPNE1_HUMAN	copine I	529					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.K529E(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCAGGATCCTTGGCTGAGGGT	0.627000													88	207					0	0	0.014410	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838795	37838795	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:37838795T>A	ENST00000327441.7	+	11	1368	c.902T>A	c.(901-903)cTg>cAg	p.L301Q	MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301								p.L301>?(1)|p.L301Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATGAGACATCTGACTGCTGAA	0.463000													28	50					0	0	0.006320	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962362	69962362	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69962362A>G	ENST00000305231.7	+	1	170	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.I42V	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	42					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.I42V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATAAAGACAATCCTGGATGA	0.418000													64	141					0	0	0.014410	0	0
PAN2	9924	broad.mit.edu	37	12	56720613	56720613	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:56720613A>G	ENST00000425394.2	-	7	1426	c.1050T>C	c.(1048-1050)tcT>tcC	p.S350S	PAN2_ENST00000257931.5_Silent_p.S350S|PAN2_ENST00000440411.3_Silent_p.S350S|PAN2_ENST00000548043.1_Silent_p.S350S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	350					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S350S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACAGCCCTCAGAATCCCCAA	0.557000													165	205					0	0	0.014410	0	0
ZNF317	57693	broad.mit.edu	37	19	9271246	9271246	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:9271246G>T	ENST00000247956.6	+	7	1230	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	ZNF317_ENST00000360385.3_Missense_Mutation_p.D277Y	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D309>?(1)|p.D309Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTACAAGTGTGATCAGTGCGG	0.577000													38	77					1.00001e-27	1.08587e-27	0.009718	1	0
EFCAB5	374786	broad.mit.edu	37	17	28405458	28405458	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:28405458C>G	ENST00000394835.3	+	15	3155	c.2963C>G	c.(2962-2964)gCt>gGt	p.A988G	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.A864G	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	988							calcium ion binding	p.A988G(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCCAATGTGCTGCAGAGACA	0.473000													22	54					0	0	0.010504	0	0
SLC4A8	9498	broad.mit.edu	37	12	51856143	51856143	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:51856143C>T	ENST00000453097.2	+	10	1368	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	SLC4A8_ENST00000514353.3_Missense_Mutation_p.A331V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A411V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A331V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A331V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	384					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.A384V(2)|p.A331V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCTCCTGGCGGGGATTGAT	0.458000													33	142					0	0	0.013726	0	0
MOV10	4343	broad.mit.edu	37	1	113217556	113217556	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:113217556C>G	ENST00000413052.2	+	2	412	c.22C>G	c.(22-24)Cgg>Ggg	p.R8G	MOV10_ENST00000369645.1_Missense_Mutation_p.R8G|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R8G|MOV10_ENST00000357443.2_Missense_Mutation_p.R8G|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	8					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R8G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTTCAGCTGCCGGCAGCTCCG	0.637000													20	69					0	0	0.006320	0	0
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:135369108G>T	ENST00000368517.3	-	11	853	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.R275R|SYCE1_ENST00000432597.2_Silent_p.R239R	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275					cell division	central element		p.R275R(1)|p.R239R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.587000													9	22					2.17888e-05	2.27407e-05	0.006214	1	0
ICOSLG	23308	broad.mit.edu	37	21	45651249	45651249	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr21:45651249A>C	ENST00000407780.3	-	5	903	c.776T>G	c.(775-777)aTc>aGc	p.I259S	ICOSLG_ENST00000400379.3_Missense_Mutation_p.I259S|ICOSLG_ENST00000400377.3_Missense_Mutation_p.I142S|ICOSLG_ENST00000344330.4_Missense_Mutation_p.I259S	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	259					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	p.I259S(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACAGCCAGGATGCTCCACGT	0.562000													25	45					0	0	0.009535	0	0
COL22A1	169044	broad.mit.edu	37	8	139620181	139620181	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:139620181G>A	ENST00000303045.6	-	57	4476	c.4030C>T	c.(4030-4032)Cct>Tct	p.P1344S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1324S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1344	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1344S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACTCACAGGGGTTCCTGAA	0.532000										HNSCC(7;0.00092)			27	68					0	0	0.006320	0	0
DENND4C	55667	broad.mit.edu	37	9	19296129	19296129	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:19296129A>G	ENST00000380432.2	+	2	250	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DENND4C_ENST00000602925.1_Missense_Mutation_p.T309A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T309A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	73	DENN.					integral to membrane		p.T73A(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCATCAATACAAACAAATG	0.393000													87	169					0	0	0.014410	0	0
PKP4	8502	broad.mit.edu	37	2	159519804	159519804	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:159519804C>T	ENST00000389757.3	+	15	2549	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Silent_p.I808I|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	808					cell adhesion	desmosome	protein binding	p.I808I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGGTCCTATCCCAGGACTGT	0.483000										HNSCC(62;0.18)			21	54					0	0	0.012319	0	0
OGDH	4967	broad.mit.edu	37	7	44736651	44736651	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:44736651G>A	ENST00000222673.5	+	15	2081	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	OGDH_ENST00000439616.2_Missense_Mutation_p.R530Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R631Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R691Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R695Q|OGDH_ENST00000449767.1_Missense_Mutation_p.R676Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	680					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R680Q(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GACGTGGAGCGGGGCACATTC	0.557000													17	108					0	0	0.007413	0	0
INPP5A	3632	broad.mit.edu	37	10	134579295	134579295	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:134579295G>C	ENST00000368594.3	+	12	1199	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	INPP5A_ENST00000368593.3_Missense_Mutation_p.E308Q	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	308					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	p.E308Q(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTTTGACAAGGAGTTGTCTGT	0.502000													25	84					0	0	0.006320	0	0
ATRNL1	26033	broad.mit.edu	37	10	117607452	117607452	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:117607452T>G	ENST00000355044.3	+	28	4094	c.3968T>G	c.(3967-3969)tTt>tGt	p.F1323C	ATRNL1_ENST00000423111.2_Missense_Mutation_p.F374C|ATRNL1_ENST00000303745.7_Missense_Mutation_p.F116C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1323						integral to membrane	sugar binding	p.F1323C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGACTGTGTTTCTTTGTCTA	0.473000													30	59					0	0	0.013726	0	0
MASP2	10747	broad.mit.edu	37	1	11097837	11097837	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11097837A>G	ENST00000400897.3	-	7	936	c.921T>C	c.(919-921)ccT>ccC	p.P307P		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	307	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.P307P(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGTGGCCATTAGGTGGCGCCA	0.507000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	130					0	0	0.018920	0	0
TOP3A	7156	broad.mit.edu	37	17	18196135	18196135	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:18196135T>C	ENST00000321105.5	-	11	1319	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.I274V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	369					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.I369V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGAAAAATGTTTGTTTCT	0.483000													48	86					0	0	0.014410	0	0
DUXAP8	503637	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs143820047	by1000genomes	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393000													4	16					0	0	0.014758	0	0
ACE2	59272	broad.mit.edu	37	X	15599440	15599440	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15599440T>G	ENST00000427411.1	-	9	1190	c.974A>C	c.(973-975)cAa>cCa	p.Q325P	ACE2_ENST00000252519.3_Missense_Mutation_p.Q325P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	325					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.Q325P(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCAGAATCCTTGAGTCATATT	0.478000													115	81					0	0	0.014410	0	0
CD27	939	broad.mit.edu	37	12	6554303	6554303	+	Silent	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:6554303C>A	ENST00000266557.3	+	1	271	c.42C>A	c.(40-42)acC>acA	p.T14T	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	14					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.T14>?(1)|p.T14T(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TTCTGGGGACCCTGGTGGGGC	0.627000													10	23					0.000442599	0.000455306	0.006214	1	0
HNRNPDL	9987	broad.mit.edu	37	4	83347685	83347685	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:83347685C>T	ENST00000295470.5	-	6	1298	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G375S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G256S|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like									p.G375S(1)									TCATATCCGCCATAGCCACTA	0.353000													26	75					0	0	0.009535	0	0
ABCC9	10060	broad.mit.edu	37	12	22028606	22028606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:22028606C>G	ENST00000261200.4	-	15	2073	c.2074G>C	c.(2074-2076)Gat>Cat	p.D692H	ABCC9_ENST00000261201.4_Missense_Mutation_p.D692H|ABCC9_ENST00000345162.2_Missense_Mutation_p.D656H|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D692H(2)|p.D692Y(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTCGAATATCTATATTGGAT	0.308000													21	123					0	0	0.016522	0	0
COMP	1311	broad.mit.edu	37	19	18896789	18896789	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:18896789T>A	ENST00000542601.2	-	12	1765	c.1376A>T	c.(1375-1377)cAg>cTg	p.Q459L	COMP_ENST00000222271.2_Missense_Mutation_p.Q492L|COMP_ENST00000425807.1_Missense_Mutation_p.Q439L			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	492			Missing (in PSACH; severe form).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.Q492L(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGTCCTCCTGGCCGGGGTT	0.711000													17	14					0	0	0.008871	0	0
OR51A2	401667	broad.mit.edu	37	11	4976305	4976305	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4976305A>G	ENST00000380371.1	-	1	638	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.433000													14	16					0	0	0.007413	0	0
BCL10	8915	broad.mit.edu	37	1	85741980	85741980	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:85741980T>A	ENST00000370580.1	-	1	793	c.56A>T	c.(55-57)gAc>gTc	p.D19V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	19	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.D19V(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTACTCACGTCCTTCTTCAC	0.682000			T	IGH@	MALT								28	99					0	0	0.010818	0	0
FAM169A	26049	broad.mit.edu	37	5	74077398	74077398	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:74077398C>A	ENST00000389156.4	-	13	1990	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.D574Y	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	634								p.D634Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GAGCTGCTATCCACAGCTTTT	0.458000													59	204					1.27862e-28	1.39545e-28	0.014410	1	0
KEAP1	9817	broad.mit.edu	37	19	10597496	10597496	+	Splice_Site	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:10597496T>C	ENST00000171111.5	-	6	2256		c.e6-2		KEAP1_ENST00000393623.2_Splice_Site	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.?(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATAGCCTCCTGCGGGAAGAA	0.567000													34	40					0	0	0.013726	0	0
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:59271541G>C	ENST00000320743.3	-	15	2463	c.2177C>G	c.(2176-2178)cCt>cGt	p.P726R	LRIG3_ENST00000379141.4_Missense_Mutation_p.P666R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	726	Ig-like C2-type 3.					integral to membrane		p.P726R(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488000			T	ROS1	NSCLC								33	119					0	0	0.012213	0	0
NES	10763	broad.mit.edu	37	1	156639511	156639511	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:156639511T>C	ENST00000368223.3	-	4	4601	c.4469A>G	c.(4468-4470)cAg>cGg	p.Q1490R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1490	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.Q1490R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACTGTCCTGGGACTCCGT	0.587000													20	81					0	0	0.007413	0	0
GTSE1	51512	broad.mit.edu	37	22	46704392	46704392	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:46704392C>T	ENST00000454366.1	+	4	526	c.314C>T	c.(313-315)gCt>gTt	p.A105V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.A105V(1)|p.A86V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TACAAAGAAGCTCACTTACTG	0.567000													28	133					0	0	0.005443	0	0
NME4	4833	broad.mit.edu	37	16	449378	449378	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:449378G>A	ENST00000397722.1	+	3	489		c.e3-1		NME4_ENST00000450036.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site|NME4_ENST00000219479.2_Splice_Site			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4						CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.?(1)		NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				ATGCCACCCAGGCACCAGAGA	0.607000													130	282					0	0	0.014410	0	0
CSF1R	1436	broad.mit.edu	37	5	149460456	149460456	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:149460456A>G	ENST00000286301.3	-	3	472	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CSF1R_ENST00000543093.1_Missense_Mutation_p.Y61H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	61	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Y61H(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCAGAGTACAGGGTCCAG	0.612000													15	51					0	0	0.004007	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308488	140308488	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140308488T>C	ENST00000253807.2	+	1	2011	c.2011T>C	c.(2011-2013)Tgg>Cgg	p.W671R	PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671R|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2												p.W671R(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATGTCTGGGAACCAGG	0.483000													58	241					0	0	0.014410	0	0
ITPR2	3709	broad.mit.edu	37	12	26492374	26492374	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:26492374C>T	ENST00000381340.3	-	57	8478	c.8062G>A	c.(8062-8064)Gga>Aga	p.G2688R	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2688					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G2688R(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTGTTTGATCCGAGGAAGCCC	0.502000													7	76					0	0	0.004482	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817427	69817427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69817427C>T	ENST00000251566.4	-	1	82	c.52G>A	c.(52-54)Gtt>Att	p.V18I		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	18						integral to membrane	glucuronosyltransferase activity	p.V18I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACAGCCAACACAGAAGAGC	0.478000													18	65					0	0	0.013726	0	0
TMCO6	55374	broad.mit.edu	37	5	140024591	140024591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140024591C>T	ENST00000394671.3	+	12	1491	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Nonsense_Mutation_p.Q470*|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.Q224*	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	464					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.Q464*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCAGCAGTCAGGGCT	0.542000													97	144					0	0	0.014410	0	0
NAA25	80018	broad.mit.edu	37	12	112499125	112499125	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:112499125G>A	ENST00000261745.4	-	12	1465	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	406						cytoplasm	protein binding	p.A406V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGATGTCAGCAGGCAGTGC	0.458000													33	36					0	0	0.019004	0	0
BAP1	8314	broad.mit.edu	37	3	52440379	52440379	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:52440379C>G	ENST00000460680.1	-	9	1144	c.673G>C	c.(673-675)Gac>Cac	p.D225H	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	225					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D225N(1)|p.D225H(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAGCGGATGTCGTGGTAGGGC	0.632000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							25	21					0	0	0.006320	0	0
XIRP2	129446	broad.mit.edu	37	2	168104737	168104737	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:168104737G>A	ENST00000409195.1	+	9	6924	c.6835G>A	c.(6835-6837)Gag>Aag	p.E2279K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2104					actin cytoskeleton organization	cell junction	actin binding	p.E2279K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTAACCCTGAGAATAATGT	0.413000													36	88					0	0	0.017118	0	0
BTNL2	56244	broad.mit.edu	37	6	32372796	32372796	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:32372796G>A	ENST00000454136.3	-	2	351	c.347C>T	c.(346-348)cCc>cTc	p.P116L	BTNL2_ENST00000374995.3_Missense_Mutation_p.P116L|BTNL2_ENST00000429232.2_Missense_Mutation_p.P116L|BTNL2_ENST00000374993.1_Missense_Mutation_p.P116L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	116	Ig-like V-type 1.					integral to membrane		p.P116L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATTGTCGGAGGGCTGGATGTT	0.488000													36	179					0	0	0.021022	0	0
GNA14	9630	broad.mit.edu	37	9	80262686	80262686	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:80262686G>A	ENST00000341700.6	-	1	537	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	8					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.S8S(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCTCCTCCGCGGACAGGCAGC	0.711000													9	14					0	0	0.008291	0	0
RAET1G	353091	broad.mit.edu	37	6	150240778	150240778	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:150240778C>A	ENST00000367360.2	-	2	327	c.260G>T	c.(259-261)tGg>tTg	p.W87L	RAET1G_ENST00000479265.1_Missense_Mutation_p.W87L	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	87	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	p.W87L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGTGCTTTCCAGGCCGTTGT	0.488000													125	181					3.36649e-63	3.75023e-63	0.014410	1	0
DNM3	26052	broad.mit.edu	37	1	172007570	172007570	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:172007570G>A	ENST00000358155.4	+	7	1137	c.961G>A	c.(961-963)Gac>Aac	p.D321N	DNM3_ENST00000355305.5_Missense_Mutation_p.D321N|DNM3_ENST00000520906.1_Missense_Mutation_p.D321N|DNM3_ENST00000367733.2_Missense_Mutation_p.D321N|DNM3_ENST00000367731.1_Missense_Mutation_p.D321N	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	321					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.D321N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAACCAGAAGACCCAACAAG	0.418000													90	78					0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920781	3920781	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:3920781C>T	ENST00000381638.2	-	48	8009	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2629							calcium ion binding|zinc ion binding	p.E2629K(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTAGGCCACTCGGCGAGCAGG	0.577000													21	44					0	0	0.012213	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604766	108604766	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:108604766T>C	ENST00000264047.2	+	2	431	c.155T>C	c.(154-156)tTg>tCg	p.L52S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L52S|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	52					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.L52S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATTGGTTTATTGGTTGGTGGA	0.542000													30	76					0	0	0.012213	0	0
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:38320157G>A	ENST00000379705.3	-	3	1671	c.814C>T	c.(814-816)Cga>Tga	p.R272*	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R272*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	272	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.R272*(2)|p.R272R(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTCATCTCGGTAATTAAGA	0.418000													109	281					0	0	0.014410	0	0
VRK3	51231	broad.mit.edu	37	19	50492998	50492998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:50492998G>A	ENST00000599538.1	-	11	1658	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	VRK3_ENST00000377011.2_Missense_Mutation_p.R282C|VRK3_ENST00000601341.1_Missense_Mutation_p.R282C|VRK3_ENST00000593919.1_Missense_Mutation_p.R332C|VRK3_ENST00000316763.3_Missense_Mutation_p.R332C|VRK3_ENST00000594092.1_Missense_Mutation_p.R332C|VRK3_ENST00000443401.2_Missense_Mutation_p.R101C|VRK3_ENST00000601912.1_Missense_Mutation_p.R282C|VRK3_ENST00000594948.1_Missense_Mutation_p.R332C|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	332	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.R332C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCAATAGCGGAAGGCGAAG	0.552000													20	28					0	0	0.012319	0	0
BMX	660	broad.mit.edu	37	X	15574250	15574250	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000342014.6_Missense_Mutation_p.R670W|BMX_ENST00000348343.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase.		R -> W (in a lung large cell carcinoma sample; somatic mutation).		cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383000													56	127					0	0	0.014410	0	0
MOS	4342	broad.mit.edu	37	8	57026488	57026488	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57026488C>T	ENST00000311923.1	-	1	53	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	18							ATP binding|protein binding|protein serine/threonine kinase activity	p.S18S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCGTCCACCGATGGGGAAA	0.697000													12	35					0	0	0.003163	0	0
EFCAB7	84455	broad.mit.edu	37	1	64027423	64027423	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:64027423T>C	ENST00000371088.4	+	11	1638	c.1392T>C	c.(1390-1392)ttT>ttC	p.F464F	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	464							calcium ion binding	p.F464F(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GACAAGGATTTATGGATTTGA	0.318000													5	53					0	0	0.001984	0	0
DNAJC13	23317	broad.mit.edu	37	3	132247081	132247081	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:132247081A>G	ENST00000260818.6	+	54	6678	c.6430A>G	c.(6430-6432)Att>Gtt	p.I2144V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2144							heat shock protein binding	p.I2144V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACTCGAAGGCATTGGCCTTGA	0.418000													33	78					0	0	0.009535	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131871	142131871	+	RNA	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:142131871G>A	ENST00000390375.2	-	0	47																											AGGAGCCCGGGGCCCATGGCA	0.607000													48	70					0	0	0.014410	0	0
CBL	867	broad.mit.edu	37	11	119170369	119170369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:119170369C>T	ENST00000264033.4	+	16	2975	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	867	Interaction with CD2AP.|UBA.				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	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q867*(1)		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)		CCTCATGAGTCAGGGGTACTC	0.532000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				267	202					0	0	0.014410	0	0
FGGY	55277	broad.mit.edu	37	1	59787249	59787249	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:59787249A>T	ENST00000371218.4	+	2	212	c.28A>T	c.(28-30)Agg>Tgg	p.R10W	FGGY_ENST00000371212.1_Missense_Mutation_p.R10W|FGGY_ENST00000303721.7_Missense_Mutation_p.R10W|FGGY_ENST00000474476.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	10					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.R10W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GAAACCAGAGAGGTACTATGT	0.493000													7	24					0	0	0.006214	0	0
WWC2	80014	broad.mit.edu	37	4	184114848	184114848	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:184114848C>G	ENST00000403733.3	+	2	427	c.228C>G	c.(226-228)atC>atG	p.I76M	WWC2_ENST00000513834.1_Missense_Mutation_p.I76M|WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Missense_Mutation_p.I76M	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	76	WW 2.							p.I76M(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTACTACATCGATCACATCA	0.423000													16	38					0	0	0.004990	0	0
GP1BA	2811	broad.mit.edu	37	17	4836215	4836215	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:4836215C>A	ENST00000329125.5	+	2	391	c.316C>A	c.(316-318)Caa>Aaa	p.Q106K		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	106								p.Q106K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAATCAGCTGCAAAGCCTGCC	0.612000													57	103					2.30037e-20	2.46059e-20	0.014410	1	0
HNRNPL	3191	broad.mit.edu	37	19	39329230	39329230	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39329230T>C	ENST00000221419.5	-	10	1730	c.1364A>G	c.(1363-1365)aAg>aGg	p.K455R	AC104534.3_ENST00000594769.1_Missense_Mutation_p.S72G|HNRNPL_ENST00000600873.1_Missense_Mutation_p.K322R	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	455	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.K322R(1)|p.K455R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTGGCTGCTTGGAGACACT	0.542000													11	66					0	0	0.016723	0	0
KCNV2	169522	broad.mit.edu	37	9	2718088	2718088	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:2718088G>A	ENST00000382082.3	+	1	587	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGAGCTGGCCGGCTTCCCCAA	0.667000													4	19					0	0	0.009096	0	0
KPNB1	3837	broad.mit.edu	37	17	45750422	45750422	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:45750422A>G	ENST00000290158.4	+	13	1993	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	KPNB1_ENST00000540627.1_Missense_Mutation_p.Y384C|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y384C|KPNB1_ENST00000537679.1_Missense_Mutation_p.Y313C	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	529					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.Y529C(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGTTCTGCATATGAATCTCTG	0.423000													39	67					0	0	0.006230	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31962020	31962020	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr20:31962020T>G	ENST00000357886.4	-	10	1303		c.e10-2		CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000477105.1_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGCAGAACCTGATGAAACAG	0.463000													27	155					0	0	0.091800	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838794	37838794	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr14:37838794C>G	ENST00000327441.7	+	11	1367	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301V|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270V|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120V|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270V|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301V|MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270V	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301								p.L301V(1)|p.L301>?(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CATGAGACATCTGACTGCTGA	0.463000													27	52					0	0	0.108266	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833686	101833686	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:101833686A>T	ENST00000263468.8	+	6	2190	c.1920A>T	c.(1918-1920)gaA>gaT	p.E640D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E441D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	640							protein binding	p.E640D(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCAATATAGAAAACAATGCTG	0.348000													13	78					0	0	0.105934	0	0
CAP2	10486	broad.mit.edu	37	6	17539634	17539634	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:17539634T>C	ENST00000229922.2	+	8	1303	c.771T>C	c.(769-771)tcT>tcC	p.S257S	CAP2_ENST00000489374.1_Silent_p.S145S|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.S193S|CAP2_ENST00000378990.2_Silent_p.S231S	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	257					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.S257S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGGAATCTTCTCCTTCACGCT	0.522000													6	117					0	0	0.021553	0	0
PUSL1	126789	broad.mit.edu	37	1	1244883	1244883	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:1244883G>A	ENST00000379031.5	+	4	450	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	125					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.A125T(1)		lung(3)|skin(1)|urinary_tract(1)	5	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-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;0.199)		TCGTCACGCAGCCACGTCCCG	0.672000													4	21					0	0	0.014758	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107259	120107259	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:120107259T>C	ENST00000307128.5	+	6	912	c.699T>C	c.(697-699)aaT>aaC	p.N233N		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	233							protein phosphatase 2B binding	p.N233N(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGTCCTTTAATAGGACTCCTA	0.393000													22	72					0	0	0.069288	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88257814	88257814	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:88257814T>C	ENST00000357081.3	-	13	1374	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	AGTPBP1_ENST00000376083.3_Silent_p.Q370Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Silent_p.Q248Q|AGTPBP1_ENST00000376109.3_Silent_p.Q422Q			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	410					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.Q370Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTCCCGGTTCTTGCTGGGGTT	0.294000													19	78					0	0	0.038395	0	0
ADAM23	8745	broad.mit.edu	37	2	207436497	207436497	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:207436497C>A	ENST00000264377.3	+	17	1941	c.1613C>A	c.(1612-1614)gCt>gAt	p.A538D	ADAM23_ENST00000374415.3_Missense_Mutation_p.A538D|ADAM23_ENST00000374416.1_Missense_Mutation_p.A538D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	538	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A538D(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCAACGGGGCTCACTGCAGC	0.443000													14	124					1.99824e-07	2.09385e-07	0.033300	1	0
VIPR1	7433	broad.mit.edu	37	3	42577695	42577695	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:42577695G>T	ENST00000433647.1	+	14	1797	c.1173G>T	c.(1171-1173)acG>acT	p.T391T	VIPR1_ENST00000438259.2_Silent_p.T222T|VIPR1_ENST00000325123.4_Silent_p.T432T|VIPR1_ENST00000543411.1_Silent_p.T384T	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	432					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.T432T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CGTGCAGCACGCAGGTTTCCA	0.692000													4	15					0.00909568	0.0092649	0.009096	1	0
NKRF	55922	broad.mit.edu	37	X	118723319	118723319	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chrX:118723319T>C	ENST00000371527.1	-	2	2721	c.2069A>G	c.(2068-2070)aAt>aGt	p.N690S	NKRF_ENST00000304449.5_Missense_Mutation_p.N690S|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.N705S	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	690					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.N690S(1)|p.N705S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AAGATCTCAATTTGCTTGAGG	0.383000													48	25					0	0	0.048971	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797169	49797169	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:49797169G>A	ENST00000454748.3	-	9	1734	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	SLC6A16_ENST00000335875.4_Silent_p.S511S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	511						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.S511S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTATTGCGCTGCTCAGCCCCA	0.483000													87	176					0	0	0.048971	0	0
ABCA13	154664	broad.mit.edu	37	7	48284188	48284188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:48284188G>A	ENST00000435803.1	+	11	1302	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	426					transport	integral to membrane	ATP binding|ATPase activity	p.W426*(1)|p.W371*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCATCTGTGGAAATTGCAAA	0.393000													6	47					0	0	0.021553	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107338	120107338	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:120107338G>C	ENST00000307128.5	+	6	991	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	260							protein phosphatase 2B binding	p.E260Q(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACTGTACCAGAATCAGAAGA	0.383000													14	48					0	0	0.020292	0	0
ARID1B	57492	broad.mit.edu	37	6	157521944	157521944	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:157521944C>G	ENST00000346085.5	+	18	4217	c.4216C>G	c.(4216-4218)Cag>Gag	p.Q1406E	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1388E|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1446E|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1393E	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1393					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q1406E(1)|p.Q1388E(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGTACAACCAGTATGGAGG	0.632000													20	108					0	0	0.055883	0	0
SCEL	8796	broad.mit.edu	37	13	78178541	78178541	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr13:78178541A>G	ENST00000377246.3	+	18	1173	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	SCEL_ENST00000349847.3_Missense_Mutation_p.N383S|SCEL_ENST00000535157.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA	NM_003843.3	NP_003834.3	O95171	SCEL_HUMAN	sciellin	383	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.N383S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAATAAAAATATTACGAGG	0.333000													83	182					0	0	0.048971	0	0
OR51A4	401666	broad.mit.edu	37	11	4967692	4967692	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:4967692A>G	ENST00000380373.2	-	1	664	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.428000													18	79					0	0	0.091800	0	0
LAMA3	3909	broad.mit.edu	37	18	21437915	21437915	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr18:21437915G>A	ENST00000313654.9	+	33	4485	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1415E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1415	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1415E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGAGCCAGGAGTGTGTGAC	0.562000													57	71					0	0	0.048971	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545795	43545795	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:43545795G>C	ENST00000430334.3	-	5	1221	c.1088C>G	c.(1087-1089)gCa>gGa	p.A363G	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A274G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	363					intracellular signal transduction	cytoplasm	metal ion binding	p.A363G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCCAGAGGCTGCCTGGGCAGG	0.642000													8	43					0	0	0.058154	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835714	12835714	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:12835714C>T	ENST00000357726.4	+	2	343	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	106								p.R106W(1)		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)		GTTGGACTTGCGGAATGTGGA	0.512000													51	333					0	0	0.048971	0	0
FSIP1	161835	broad.mit.edu	37	15	39910371	39910371	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr15:39910371T>C	ENST00000350221.3	-	11	1473	c.1264A>G	c.(1264-1266)Atc>Gtc	p.I422V		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	422								p.I422V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGTTTAATGATGGATTTTTGT	0.368000													53	65					0	0	0.048971	0	0
NBEA	26960	broad.mit.edu	37	13	35923273	35923273	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr13:35923273A>G	ENST00000540320.1	+	37	6466	c.5932A>G	c.(5932-5934)Ata>Gta	p.I1978V	NBEA_ENST00000400445.3_Missense_Mutation_p.I1978V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1975V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1978V			Q8NFP9	NBEA_HUMAN	neurobeachin	1978						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.I1978V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGGACCATATAGTCCGTGT	0.348000													10	51					0	0	0.080935	0	0
GPR133	283383	broad.mit.edu	37	12	131487771	131487771	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:131487771C>T	ENST00000261654.5	+	10	1627	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	GPR133_ENST00000535015.1_Silent_p.T388T|GPR133_ENST00000376682.4_Silent_p.T42T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	356					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T356T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTATTGACACCGTCATGGGCC	0.602000													52	167					0	0	0.048971	0	0
PER1	5187	broad.mit.edu	37	17	8046123	8046123	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:8046123C>T	ENST00000317276.4	-	20	3340	c.3103G>A	c.(3103-3105)Gca>Aca	p.A1035T	PER1_ENST00000581082.1_Missense_Mutation_p.A1012T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1035	Ser-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.A1035T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGAAAGTGCGTCCTGATTG	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					8	26					0	0	0.047766	0	0
CD27	939	broad.mit.edu	37	12	6554304	6554304	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:6554304C>G	ENST00000266557.3	+	1	272	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.T14>?(1)|p.L15V(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TCTGGGGACCCTGGTGGGGCT	0.632000													10	22					0	0	0.058154	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54745612	54745612	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:54745612T>A	ENST00000355221.3	-	3	707	c.148A>T	c.(148-150)Att>Ttt	p.I50F	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.I10F|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.I50F	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	50					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.I50F(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AACCTCTGAATAAACTCACAA	0.368000													79	77					0	0	0.048971	0	0
LST3	0	broad.mit.edu	37	12	21242857	21242857	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:21242857C>T	ENST00000540229.1	+	16	2129	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000554957.1_Silent_p.G627G|SLCO1B3_ENST00000553473.1_Silent_p.G688G|SLCO1B7_ENST00000421593.2_Silent_p.G580G														p.G580G(1)									CCTTCTTCGGCTTGAAGGTAG	0.299000													15	48					0	0	0.024245	0	0
NSD1	64324	broad.mit.edu	37	5	176562709	176562709	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:176562709G>A	ENST00000439151.2	+	2	650	c.605G>A	c.(604-606)gGt>gAt	p.G202D	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G202D|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.G202D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGAATGGTGTAAAAGTG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			58	100					0	0	0.048971	0	0
THSD7B	80731	broad.mit.edu	37	2	137814383	137814383	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:137814383G>A	ENST00000409968.1	+	3	711	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q					thrombospondin, type I, domain containing 7B									p.R147Q(1)|p.R178Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGTCCCCGGGATTGTGTA	0.498000													48	324					0	0	0.048971	0	0
CAPZB	832	broad.mit.edu	37	1	19670914	19670914	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:19670914T>C	ENST00000401084.2	-	8	802	c.669A>G	c.(667-669)aaA>aaG	p.K223K	CAPZB_ENST00000375142.1_Silent_p.K223K|CAPZB_ENST00000433834.1_Silent_p.K252K|CAPZB_ENST00000264202.6_Silent_p.K223K|CAPZB_ENST00000375144.1_Silent_p.K211K|CAPZB_ENST00000264203.3_Intron	NM_001282162.1|NM_004930.3	NP_001269091.1|NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	223					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	p.K223K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TACTTCTGATTTTATTTTCCA	0.517000											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	112					0	0	0.050027	0	0
SLC5A8	160728	broad.mit.edu	37	12	101595946	101595946	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:101595946A>T	ENST00000536262.2	-	3	1023	c.465T>A	c.(463-465)aaT>aaA	p.N155K		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	155					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.N155K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTACCTTGATTCAAAGCCA	0.388000													29	47					0	0	0.050027	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281971	71281971	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:71281971G>A	ENST00000335793.3	-	2	1063	c.669C>T	c.(667-669)agC>agT	p.S223S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S153S			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	223					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	p.S223S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGTCCATGATGCTGAGGACGT	0.657000													70	103					0	0	0.048971	0	0
ZNF317	57693	broad.mit.edu	37	19	9271247	9271247	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:9271247A>T	ENST00000247956.6	+	7	1231	c.926A>T	c.(925-927)gAt>gTt	p.D309V	ZNF317_ENST00000360385.3_Missense_Mutation_p.D277V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D309V(1)|p.D309>?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TACAAGTGTGATCAGTGCGGG	0.572000													39	78					0	0	0.111260	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205902	36205902	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:36205902A>C	ENST00000392197.2	+	3	692	c.374A>C	c.(373-375)aAg>aCg	p.K125T	ZBTB32_ENST00000262630.3_Missense_Mutation_p.K125T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	125					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.K125T(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGAAGAAACATCAG	0.577000													20	88					0	0	0.043863	0	0
RERE	473	broad.mit.edu	37	1	8601355	8601355	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:8601355A>C	ENST00000337907.3	-	8	1382	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	RERE_ENST00000400907.2_Missense_Mutation_p.F250V|RERE_ENST00000400908.2_Missense_Mutation_p.F250V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	250	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F250V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCAGAAAAATGGGAGATG	0.398000													60	64					0	0	0.048971	0	0
CTBP2	1488	broad.mit.edu	37	10	126727575	126727575	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:126727575T>A	ENST00000337195.5	-	3	448	c.49A>T	c.(49-51)Att>Ttt	p.I17F	CTBP2_ENST00000411419.2_Missense_Mutation_p.I17F|CTBP2_ENST00000494626.2_Missense_Mutation_p.I17F|CTBP2_ENST00000531469.1_Missense_Mutation_p.I17F|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	17					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.I17F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTCACAAATTCTGTCCAAT	0.468000													20	96					0	0	0.055883	0	0
MYBPC3	4607	broad.mit.edu	37	11	47359095	47359095	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:47359095G>C	ENST00000399249.2	-	24	2503	c.2449C>G	c.(2449-2451)Cgg>Ggg	p.R817G	MYBPC3_ENST00000545968.1_Missense_Mutation_p.R817G|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R816G			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	816	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R817G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCATCCACCGGTAGCTCTTC	0.607000													9	43					0	0	0.058154	0	0
TRPS1	7227	broad.mit.edu	37	8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:116632282C>T	ENST00000395715.3	-	3	620	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TRPS1_ENST00000519076.1_Missense_Mutation_p.V2I|TRPS1_ENST00000519674.1_Missense_Mutation_p.V2I|TRPS1_ENST00000520276.1_Missense_Mutation_p.V6I|TRPS1_ENST00000220888.5_Missense_Mutation_p.V2I	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	2					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V15I(1)|p.V2I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408000									Langer-Giedion syndrome				14	87					0	0	0.020292	0	0
EIF3A	8661	broad.mit.edu	37	10	120801833	120801833	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:120801833G>A	ENST00000369144.3	-	19	3326	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1033W	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1067	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				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)		CTGGGACCCCGGTCATCATCA	0.632000													63	311					0	0	0.048971	0	0
DYSF	8291	broad.mit.edu	37	2	71795448	71795448	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:71795448G>T	ENST00000258104.3	+	26	3067	c.2790G>T	c.(2788-2790)tgG>tgT	p.W930C	DYSF_ENST00000394120.2_Missense_Mutation_p.W931C|DYSF_ENST00000409651.1_Missense_Mutation_p.W962C|DYSF_ENST00000409366.1_Missense_Mutation_p.W931C|DYSF_ENST00000409744.1_Missense_Mutation_p.W917C|DYSF_ENST00000409762.1_Missense_Mutation_p.W947C|DYSF_ENST00000410041.1_Missense_Mutation_p.W948C|DYSF_ENST00000413539.2_Missense_Mutation_p.W961C|DYSF_ENST00000429174.2_Missense_Mutation_p.W930C|DYSF_ENST00000409582.3_Missense_Mutation_p.W947C|DYSF_ENST00000410020.3_Missense_Mutation_p.W948C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	930			W -> C (in LGMD2B; uncetain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W948C(1)|p.W930C(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGGAGATTGGTTCGTGTGTC	0.647000													234	486					2.56588e-125	2.85243e-125	0.048971	1	0
COL6A6	131873	broad.mit.edu	37	3	130292969	130292969	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:130292969C>A	ENST00000358511.6	+	7	3178	c.3147C>A	c.(3145-3147)caC>caA	p.H1049Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.H1049Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1049	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.H1049Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATACCTATCACCCGGAGTTTC	0.433000													24	56					1.10513e-12	1.1692e-12	0.069288	1	0
ACO2	50	broad.mit.edu	37	22	41865168	41865168	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:41865168A>G	ENST00000396512.3	+	1	35	c.18A>G	c.(16-18)ctA>ctG	p.L6L	ACO2_ENST00000216254.4_Silent_p.L6L			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	6					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.L6L(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTACAGCCTACTGGTGACTC	0.647000													22	108					0	0	0.083992	0	0
MGAT1	4245	broad.mit.edu	37	5	180219243	180219243	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:180219243G>T	ENST00000446023.2	-	3	1479	c.729C>A	c.(727-729)gaC>gaA	p.D243E	MGAT1_ENST00000333055.3_Missense_Mutation_p.D243E|MGAT1_ENST00000427865.2_Missense_Mutation_p.D243E|MGAT1_ENST00000307826.4_Missense_Mutation_p.D243E|MGAT1_ENST00000393340.3_Missense_Mutation_p.D243E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	243					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.D243E(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGCCGTTGTCATTCCAGG	0.642000													7	140					8.12818e-05	8.39657e-05	0.029380	1	0
FAM126A	84668	broad.mit.edu	37	7	22985595	22985595	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:22985595T>C	ENST00000432176.2	-	11	1411	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	393						cytoplasm|membrane	signal transducer activity	p.E393E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TAGTTTCTTTTTCTTTTCCTC	0.418000													113	195					0	0	0.048971	0	0
GPX6	257202	broad.mit.edu	37	6	28474199	28474199	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:28474199A>C	ENST00000361902.1	-	3	298	c.249T>G	c.(247-249)aaT>aaG	p.N83K	GPX6_ENST00000474923.1_Missense_Mutation_p.N83K|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	83					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.N83K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CCTGTAGTGCATTCAGTTCTG	0.443000													20	119					0	0	0.062417	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260767	42260767	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:42260767G>A	ENST00000199764.6	+	2	542	c.324G>A	c.(322-324)ctG>ctA	p.L108L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	108	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.L108L(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CATCCCTGCTGATCCAGAACG	0.458000													166	382					0	0	0.048971	0	0
HOXB4	3214	broad.mit.edu	37	17	46654171	46654171	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:46654171C>A	ENST00000332503.5	-	2	2460	c.669G>T	c.(667-669)ttG>ttT	p.L223F	HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L223F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TGGTGTTGGGCAACTTGTGGT	0.677000													66	121					9.65139e-37	1.05683e-36	0.048971	1	0
LRP10	26020	broad.mit.edu	37	14	23344694	23344694	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr14:23344694C>T	ENST00000359591.4	+	5	1228	c.537C>T	c.(535-537)ttC>ttT	p.F179F	LRP10_ENST00000546834.1_Silent_p.F179F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	179					endocytosis	coated pit|integral to membrane		p.F179F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGACCCCTTCCCTGGCCTGA	0.582000													71	191					0	0	0.048971	0	0
ERCC2	2068	broad.mit.edu	37	19	45856352	45856352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:45856352C>G	ENST00000391945.4	-	19	1897	c.1820G>C	c.(1819-1821)gGa>gCa	p.G607A	ERCC2_ENST00000391944.3_Missense_Mutation_p.G529A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	607	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.G607A(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAAGTCGATTCCCTCGGACAC	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				43	109					0	0	0.048971	0	0
SIM1	6492	broad.mit.edu	37	6	100868688	100868688	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:100868688G>C	ENST00000369208.3	-	10	1927	c.1145C>G	c.(1144-1146)tCc>tGc	p.S382C	SIM1_ENST00000262901.4_Missense_Mutation_p.S382C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	382	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S382C(1)|p.S382*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGAAGTCCTGGATTTTGACTT	0.473000													47	82					0	0	0.048971	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	107					0	0	0.055883	0	0
TPRA1	131601	broad.mit.edu	37	3	127294260	127294260	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:127294260G>A	ENST00000355552.3	-	9	1135	c.759C>T	c.(757-759)atC>atT	p.I253I	TPRA1_ENST00000465915.1_5'UTR|TPRA1_ENST00000489960.1_Silent_p.I253I|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000450633.2_Silent_p.I253I	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	253					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	p.I253I(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCCCCTCGATGATGTCGAAGC	0.682000											OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0.038147	0	0
PNPT1	87178	broad.mit.edu	37	2	55895071	55895071	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:55895071T>C	ENST00000447944.2	-	12	1085	c.999A>G	c.(997-999)ccA>ccG	p.P333P		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	333					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.P333P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTATTTCATATGGATCGGCTT	0.274000													22	61					0	0	0.045705	0	0
ACD	65057	broad.mit.edu	37	16	67692470	67692470	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:67692470G>T	ENST00000219251.8	-	9	1397	c.1066C>A	c.(1066-1068)Ccc>Acc	p.P356T	ACD_ENST00000393919.4_Missense_Mutation_p.P359T	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	359	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.P356T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAACTGGGTGAGGAAGGA	0.617000													23	107					3.28513e-13	3.49244e-13	0.091800	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	95					0	0	0.069234	0	0
SELP	6403	broad.mit.edu	37	1	169578782	169578782	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:169578782A>G	ENST00000263686.6	-	8	1330	c.1293T>C	c.(1291-1293)gaT>gaC	p.D431D	SELP_ENST00000367794.2_Silent_p.D369D|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Silent_p.D369D|SELP_ENST00000458599.2_Silent_p.D369D|SELP_ENST00000367793.2_Silent_p.D369D|SELP_ENST00000367792.2_Silent_p.D369D|SELP_ENST00000367786.2_Silent_p.D369D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	431	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.D431D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCCAAGTTATCACACCGAA	0.488000													42	32					0	0	0.048971	0	0
INSC	387755	broad.mit.edu	37	11	15212291	15212291	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:15212291A>G	ENST00000379554.3	+	6	811	c.765A>G	c.(763-765)acA>acG	p.T255T	INSC_ENST00000528567.1_Silent_p.T208T|INSC_ENST00000530161.1_Silent_p.T208T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.T208T|INSC_ENST00000424273.1_Silent_p.T208T|INSC_ENST00000525218.1_Silent_p.T208T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	255					cell differentiation|nervous system development	cytoplasm	binding	p.T255T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCTACACCACAGAGTCCACCA	0.507000													107	150					0	0	0.048971	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:837498C>T	ENST00000283441.8	-	6	1265	c.882G>A	c.(880-882)atG>atA	p.M294I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	294						integral to membrane	acyltransferase activity|zinc ion binding	p.M294I(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483000													53	307					0	0	0.048971	0	0
POFUT1	23509	broad.mit.edu	37	20	30803206	30803206	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr20:30803206T>C	ENST00000375749.3	+	3	443	c.381T>C	c.(379-381)ttT>ttC	p.F127F	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Silent_p.F127F	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	127					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	p.F127F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATACTGCTTTGAGGTGGCAG	0.602000													85	180					0	0	0.048971	0	0
ZNF813	126017	broad.mit.edu	37	19	53994029	53994029	+	Silent	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:53994029T>G	ENST00000396403.4	+	4	671	c.543T>G	c.(541-543)tcT>tcG	p.S181S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S181S(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGAATTTCTTGTAGGCCCA	0.388000													44	248					0	0	0.042209	0	0
TYK2	7297	broad.mit.edu	37	19	10475635	10475635	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:10475635G>A	ENST00000525621.1	-	8	1582	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	TYK2_ENST00000529370.1_Silent_p.D367D|TYK2_ENST00000264818.6_Silent_p.D367D|TYK2_ENST00000524462.1_Silent_p.D182D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	367	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.D367D(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCGCGGCCTGTCTGCCGGCT	0.617000													21	50					0	0	0.069288	0	0
OR2V2	285659	broad.mit.edu	37	5	180581946	180581946	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:180581946G>C	ENST00000328275.1	+	1	4	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E2Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGCCATGGAGACGTGGGT	0.493000													72	109					0	0	0.048971	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327289	133327289	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:133327289T>C	ENST00000539605.1	-	2	7285	c.601A>G	c.(601-603)Acg>Gcg	p.T201A	ANKLE2_ENST00000357997.5_Missense_Mutation_p.T263A|ANKLE2_ENST00000337516.5_Missense_Mutation_p.T263A			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	263						cytoplasm|integral to membrane|nuclear envelope		p.T263A(1)		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)		GGTAAGGACGTTTTGCTTGGA	0.423000													46	40					0	0	0.048971	0	0
PRDM4	11108	broad.mit.edu	37	12	108140192	108140192	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:108140192A>G	ENST00000228437.5	-	6	1595	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	379					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L379P(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGGTCACACAGAGTACACCC	0.453000													3	104					0	0	0.014758	0	0
VAC14	55697	broad.mit.edu	37	16	70834774	70834774	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:70834774G>T	ENST00000261776.5	-	1	290	c.30C>A	c.(28-30)ctC>ctA	p.L10L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	10					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.L10L(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGTTAGGCGTGAGCGGCGCGA	0.667000													13	109					0.00244969	0.00250693	0.020292	1	0
CENPT	80152	broad.mit.edu	37	16	67863976	67863976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:67863976G>A	ENST00000562787.1	-	12	1426	c.878C>T	c.(877-879)gCc>gTc	p.A293V	CENPT_ENST00000564817.1_Missense_Mutation_p.A293V|CENPT_ENST00000440851.2_Missense_Mutation_p.A293V|CENPT_ENST00000219172.3_Missense_Mutation_p.A293V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	293					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.A293V(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAAACTGGGCTGGTTTCCC	0.567000													32	36					0	0	0.041601	0	0
KAT6A	7994	broad.mit.edu	37	8	41794882	41794882	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:41794882T>C	ENST00000396930.3	-	17	3787	c.3244A>G	c.(3244-3246)Aga>Gga	p.R1082G	KAT6A_ENST00000406337.1_Missense_Mutation_p.R1082G|KAT6A_ENST00000265713.2_Missense_Mutation_p.R1082G	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1082					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R1082G(1)									AAGTATTCTCTAGGGAAAAGT	0.428000													43	59					0	0	0.104719	0	0
EVI2B	2124	broad.mit.edu	37	17	29631980	29631980	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:29631980C>G	ENST00000330927.4	-	2	802	c.648G>C	c.(646-648)ttG>ttC	p.L216F	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.L231F|EVI2B_ENST00000577894.1_Missense_Mutation_p.L216F	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	216						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.L216F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTATAGCTACCAACATAGAAG	0.343000													53	161					0	0	0.048971	0	0
KCNA4	3739	broad.mit.edu	37	11	30033503	30033503	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:30033503C>T	ENST00000328224.6	-	2	1956	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	241						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.L241L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGGCCTCTTCAGGCGGCCTC	0.498000													61	99					0	0	0.048971	0	0
CMTR2	55783	broad.mit.edu	37	16	71319027	71319027	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:71319027A>C	ENST00000338099.5	-	3	1133	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CMTR2_ENST00000434935.2_Missense_Mutation_p.L266R					cap methyltransferase 2	266								p.L266R(1)									ACCGTTTCCAAGAGTGGTCAG	0.398000													29	60					0	0	0.037714	0	0
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:40192632C>T	ENST00000302541.6	+	4	768	c.426C>T	c.(424-426)taC>taT	p.Y142Y	MYRIP_ENST00000425621.1_Silent_p.Y142Y|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.Y142Y|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000396217.3_Intron	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport		actin binding|zinc ion binding	p.Y142Y(1)|p.Y142*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAACCTGTACAGGAAGCACC	0.552000													8	24					0	0	0.080935	0	0
ARMC3	219681	broad.mit.edu	37	10	23290965	23290965	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:23290965A>G	ENST00000298032.5	+	12	1627	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D	ARMC3_ENST00000409983.3_Missense_Mutation_p.N515D|ARMC3_ENST00000376528.4_Missense_Mutation_p.N252D|ARMC3_ENST00000409049.3_Missense_Mutation_p.N515D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	515							binding	p.N515D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGACGGCCAATGAATTATG	0.532000													13	23					0	0	0.020292	0	0
POLR3A	11128	broad.mit.edu	37	10	79769683	79769683	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:79769683G>A	ENST00000372371.3	-	13	1846	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	570					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.S570L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACCAGTATTGAAGCAATGAT	0.453000													21	50					0	0	0.049695	0	0
TRAF5	7188	broad.mit.edu	37	1	211529792	211529792	+	Silent	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:211529792T>A	ENST00000336184.2	+	4	420	c.360T>A	c.(358-360)gtT>gtA	p.V120V	TRAF5_ENST00000367004.3_Silent_p.V120V|TRAF5_ENST00000261464.5_Silent_p.V120V|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Silent_p.V120V	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	120			V -> G (in dbSNP:rs3946808).		apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V120V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ATGCCAAGGTTATTCTGGGCC	0.378000													21	154					0	0	0.069288	0	0
PNPLA7	375775	broad.mit.edu	37	9	140444633	140444633	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:140444633T>C	ENST00000406427.1	-	1	353	c.17A>G	c.(16-18)gAt>gGt	p.D6G	PNPLA7_ENST00000277531.4_Missense_Mutation_p.D6G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	6					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.D6G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGCTGTCATCTTTCTCTTC	0.547000													30	169					0	0	0.054565	0	0
PAH	5053	broad.mit.edu	37	12	103249082	103249082	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:103249082T>A	ENST00000553106.1	-	6	1010	c.538A>T	c.(538-540)Atg>Ttg	p.M180L	PAH_ENST00000307000.2_Missense_Mutation_p.M175L|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	180					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.M180L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCTTCCTCCATGTATTCCACT	0.468000													13	85					0	0	0.024245	0	0
KIF12	113220	broad.mit.edu	37	9	116856478	116856478	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:116856478T>C	ENST00000374118.3	-	10	1119	c.882A>G	c.(880-882)ctA>ctG	p.L294L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	427					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L294L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCTCATTCTCTAGCATGAACT	0.627000													19	90					0	0	0.055883	0	0
IGF1R	3480	broad.mit.edu	37	15	99250976	99250976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr15:99250976G>A	ENST00000268035.6	+	2	891	c.280G>A	c.(280-282)Gag>Aag	p.E94K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E94K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	94					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.E94K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGCTGGCCTCGAGAGCCTCGG	0.577000													7	62					0	0	0.029380	0	0
PGM2	55276	broad.mit.edu	37	4	37850207	37850207	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:37850207G>A	ENST00000381967.4	+	11	1447	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	PGM2_ENST00000537241.1_Silent_p.E289E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	449					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.E449E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAAGTGCAGAGTTGGCTAGCT	0.408000													58	85					0	0	0.048971	0	0
GLI3	2737	broad.mit.edu	37	7	42004980	42004980	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:42004980G>T	ENST00000395925.3	-	15	3775	c.3691C>A	c.(3691-3693)Ctc>Atc	p.L1231I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1231					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1231I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTTGTGGAGCATCAAGTGC	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				41	94					1.41504e-22	1.51908e-22	0.042209	1	0
CTU1	90353	broad.mit.edu	37	19	51607330	51607330	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:51607330T>C	ENST00000421832.2	-	2	541	c.497A>G	c.(496-498)cAc>cGc	p.H166R		NM_145232.3	NP_660275.2	Q7Z7A3	CTU1_HUMAN	cytosolic thiouridylase subunit 1	166					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding	p.H166R(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4						TGTCACGATGTGCGTGGCTCC	0.706000													10	12					0	0	0.105934	0	0
CUBN	8029	broad.mit.edu	37	10	16911845	16911845	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:16911845C>G	ENST00000377833.4	-	59	9309	c.9244G>C	c.(9244-9246)Gat>Cat	p.D3082H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3082	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.D3082H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATCAAAATCACTGAACCTG	0.413000													38	57					0	0	0.092188	0	0
SKIL	6498	broad.mit.edu	37	3	170079087	170079087	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:170079087C>T	ENST00000458537.3	+	1	1677	c.968C>T	c.(967-969)gCt>gTt	p.A323V	SKIL_ENST00000259119.4_Missense_Mutation_p.A323V|SKIL_ENST00000426052.2_Missense_Mutation_p.A303V|SKIL_ENST00000413427.2_Missense_Mutation_p.A323V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	323					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.A323V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGAATCAGCTAAATGGCAT	0.398000													34	196					0	0	0.080422	0	0
COPB1	1315	broad.mit.edu	37	11	14490389	14490389	+	Missense_Mutation	SNP	C	C	A	rs139561241	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:14490389C>A	ENST00000249923.3	-	16	2283	c.1983G>T	c.(1981-1983)agG>agT	p.R661S	COPB1_ENST00000439561.2_Missense_Mutation_p.R661S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	661					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.R661S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGTCACATTCCTCTTTTCAG	0.378000													47	181					1.66251e-12	1.75043e-12	0.048971	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54649078	54649078	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:54649078A>T	ENST00000230640.5	+	14	1768	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.D505V(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CGCAAATTTGATGGGAAGGAT	0.333000													21	134					0	0	0.069288	0	0
SIM1	6492	broad.mit.edu	37	6	100868687	100868687	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:100868687G>T	ENST00000369208.3	-	10	1928	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S	SIM1_ENST00000262901.4_Silent_p.S382S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	382	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S382S(1)|p.S382*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGAAGTCCTGGATTTTGACT	0.468000													47	84					3.21987e-24	3.47365e-24	0.048971	1	0
FJX1	24147	broad.mit.edu	37	11	35640856	35640856	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:35640856G>A	ENST00000317811.4	+	1	1122	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	224						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				AGTGGGCGCAGGTGCAGGAGG	0.731000													4	4					0	0	0.014758	0	0
ATM	472	broad.mit.edu	37	11	108218083	108218083	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:108218083A>T	ENST00000278616.4	+	59	9047	c.8662A>T	c.(8662-8664)Ata>Tta	p.I2888L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.I2888L|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2888	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.I2888L(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTGTACATATAGATCTAGG	0.303000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			53	89					0	0	0.048971	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	rs143524950		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:7993258G>A	ENST00000377507.3	-	7	809	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	215	Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.R215W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428000													34	43					0	0	0.059317	0	0
LENG8	114823	broad.mit.edu	37	19	54971986	54971986	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:54971986C>T	ENST00000326764.5	+	16	2760	c.2281C>T	c.(2281-2283)Ctg>Ttg	p.L761L	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0							protein binding	p.L761L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCAGGCCGAGCTGGCCTTCGA	0.711000													7	7					0	0	0.058154	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092032	139092032	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:139092032A>T	ENST00000354926.4	+	6	977	c.623A>T	c.(622-624)gAt>gTt	p.D208V	C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207V|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274V|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205V	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2												p.D208V(1)									CGACTGGCTGATCATTTTGGG	0.398000													24	108					0	0	0.030593	0	0
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:7079645C>T	ENST00000299481.4	+	8	2943	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.A866V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGAGTGATGCCCTGCAACAT	0.363000													49	58					0	0	0.048971	0	0
XPR1	9213	broad.mit.edu	37	1	180843064	180843064	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:180843064A>G	ENST00000367590.4	+	13	1992	c.1794A>G	c.(1792-1794)ccA>ccG	p.P598P	XPR1_ENST00000367589.3_Silent_p.P533P	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	598	EXS.					integral to plasma membrane	G-protein coupled receptor activity	p.P598P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTGCCCCACTTGAGGTTT	0.363000													40	37					0	0	0.098360	0	0
HEATR6	63897	broad.mit.edu	37	17	58145064	58145064	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:58145064T>C	ENST00000184956.6	-	8	985	c.969A>G	c.(967-969)ccA>ccG	p.P323P	HEATR6_ENST00000585976.1_Silent_p.P323P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	323	Poly-Lys.						binding	p.P323P(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGATTTTCTTTGGTTTTACTT	0.413000													43	99					0	0	0.048971	0	0
XPOT	11260	broad.mit.edu	37	12	64815090	64815090	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:64815090A>G	ENST00000332707.5	+	9	1448	c.919A>G	c.(919-921)Agt>Ggt	p.S307G		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	307	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.S307G(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTTAGTTGGAGTAAATTAAT	0.373000													47	166					0	0	0.045515	0	0
SAMD11	148398	broad.mit.edu	37	1	871255	871255	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:871255G>A	ENST00000342066.3	+	5	492	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	137						nucleus		p.E137K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGCAGCCTGGAGATTGGCCT	0.677000													32	33					0	0	0.054565	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148065	1148065	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:1148065T>C	ENST00000379236.3	-	4	394	c.390A>G	c.(388-390)ccA>ccG	p.P130P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	130					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	p.P130P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAAGTGCCCTGGAGGGCAGG	0.697000													8	9					0	0	0.069234	0	0
ZNF253	56242	broad.mit.edu	37	19	20003518	20003518	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:20003518C>G	ENST00000589717.1	+	4	1554	c.1462C>G	c.(1462-1464)Ctt>Gtt	p.L488V	ZNF253_ENST00000355650.4_Missense_Mutation_p.L412V|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L488V(1)|p.L460V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGACAGATCTTTTAAATGT	0.358000													3	121					0	0	0.004672	0	0
C19orf54	284325	broad.mit.edu	37	19	41248527	41248527	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:41248527G>A	ENST00000378313.2	-	6	986	c.867C>T	c.(865-867)tcC>tcT	p.S289S	C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Silent_p.S117S|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Silent_p.S117S	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	289								p.P148L(1)|p.S289S(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCCCTGCTTGGACAGCAGGT	0.657000													10	34					0	0	0.069234	0	0
DLG5	9231	broad.mit.edu	37	10	79567584	79567584	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:79567584T>G	ENST00000372391.2	-	25	4771	c.4766A>C	c.(4765-4767)aAg>aCg	p.K1589T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1249T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1589					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.K1589T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCAGGCCCTTGGCCTTCGT	0.572000													20	129					0	0	0.076483	0	0
SLC17A5	26503	broad.mit.edu	37	6	74331540	74331540	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:74331540A>G	ENST00000355773.5	-	7	1233	c.965T>C	c.(964-966)tTc>tCc	p.F322S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	322					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	p.F322S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGAACATTGAACCTTAGGAT	0.313000													12	36					0	0	0.093190	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000													4	11					0	0	0.009096	0	0
CNOT2	4848	broad.mit.edu	37	12	70672040	70672040	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:70672040A>T	ENST00000229195.3	+	2	613	c.34A>T	c.(34-36)Aaa>Taa	p.K12*	CNOT2_ENST00000418359.3_Nonsense_Mutation_p.K12*	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.K12*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTATCTGAGAAAAGAAACTA	0.398000													38	105					0	0	0.086207	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	95					0	0	0.069234	0	0
BMP8B	656	broad.mit.edu	37	1	40228856	40228856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:40228856G>A	ENST00000372827.3	-	6	1342	c.967C>T	c.(967-969)Caa>Taa	p.Q323*	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	323					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	p.Q323*(1)		endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGTAGCCTTGGGGAGCGATG	0.622000													39	142					0	0	0.098360	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:33284382G>A	ENST00000431845.2	-	2	463	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZBTB22_ENST00000418724.1_Silent_p.A104A	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A104A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTCTCAAAGGCGCCTGGGT	0.577000													52	210					0	0	0.048971	0	0
SLC36A1	206358	broad.mit.edu	37	5	150844717	150844717	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:150844717G>A	ENST00000243389.3	+	5	629	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC36A1_ENST00000520701.1_Missense_Mutation_p.A136T|SLC36A1_ENST00000429484.2_Missense_Mutation_p.A136T|SLC36A1_ENST00000521925.1_Missense_Mutation_p.A136T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	136					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.A136T(2)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCGGAACCACGCACACTGGGG	0.522000													31	84					0	0	0.069456	0	0
IGHG2	3501	broad.mit.edu	37	14	106110214	106110214	+	RNA	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr14:106110214G>T	ENST00000390545.2	-	0	403																											GACCTCAGGGGTCCGGGAGAT	0.602000													58	60					6.4685e-43	7.1186e-43	0.048971	1	0
C5orf42	65250	broad.mit.edu	37	5	37183002	37183002	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:37183002C>T	ENST00000274258.7	-	26	5511	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	C5orf42_ENST00000508244.1_Missense_Mutation_p.D1761N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D1761N			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1761								p.D1761N(1)|p.D642N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATACCAGAATCACAGAGTAGC	0.413000													44	74					0	0	0.045515	0	0
TTN	7273	broad.mit.edu	37	2	179616127	179616127	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:179616127T>G	ENST00000360870.5	-	46	11222	c.11000A>C	c.(10999-11001)aAa>aCa	p.K3667T	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9512	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATCTGTTTTCTTGGCAGA	0.363000													50	106					0	0	0.048971	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39909602	39909602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:39909602C>T	ENST00000425673.1	+	11	1547	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R408C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R408C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R408C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R349C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	408	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R408C(1)|p.R366C(1)|p.R349C(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCAGCGCCTCTTCTT	0.612000													86	180					0	0	0.048971	0	0
C16orf54	283897	broad.mit.edu	37	16	29756070	29756070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:29756070C>T	ENST00000329410.3	-	2	298	c.203G>A	c.(202-204)cGt>cAt	p.R68H		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	68						integral to membrane		p.R68H(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GGTGGGTGCACGGTGGCTGGG	0.677000													4	3					0	0	0.009096	0	0
EP300	2033	broad.mit.edu	37	22	41489057	41489057	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:41489057A>G	ENST00000263253.7	+	1	1268	c.49A>G	c.(49-51)Aaa>Gaa	p.K17E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.K17E(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCGGCCTAAACTCTCATC	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				75	132					0	0	0.048971	0	0
CPT1B	1375	broad.mit.edu	37	22	51007850	51007850	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:51007850T>A	ENST00000360719.2	-	19	2373	c.2236A>T	c.(2236-2238)Aac>Tac	p.N746Y	CPT1B_ENST00000312108.7_Splice_Site_p.N746Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Splice_Site_p.N665Y|CPT1B_ENST00000395650.2_Splice_Site_p.N746Y|CPT1B_ENST00000457250.1_Splice_Site_p.N712Y|CPT1B_ENST00000434492.2_Splice_Site_p.N541Y|CPT1B_ENST00000405237.3_Splice_Site_p.N746Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	746					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.N746Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGCTGGGCGTTCTGTGGGAGC	0.537000													21	98					0	0	0.049695	0	0
CUBN	8029	broad.mit.edu	37	10	16911660	16911660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:16911660C>T	ENST00000377833.4	-	59	9494	c.9429G>A	c.(9427-9429)tgG>tgA	p.W3143*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3143	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.W3143*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGACATCTTCCAGCCTTTTG	0.448000													149	201					0	0	0.048971	0	0
ZNF133	7692	broad.mit.edu	37	20	18295856	18295856	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr20:18295856G>T	ENST00000377671.3	+	7	917	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	ZNF133_ENST00000396026.3_Missense_Mutation_p.D124Y|ZNF133_ENST00000535822.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.D121Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.D58Y|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000316358.4_Missense_Mutation_p.D121Y	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	121						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D120Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCAGCCTGGGGATCCGGGCCC	0.562000													79	185					3.47267e-51	3.84099e-51	0.048971	1	0
ZNF106	64397	broad.mit.edu	37	15	42731243	42731243	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr15:42731243C>T	ENST00000263805.4	-	8	4789	c.4463G>A	c.(4462-4464)gGc>gAc	p.G1488D	ZNF106_ENST00000565380.1_Missense_Mutation_p.G716D|ZNF106_ENST00000565611.1_Missense_Mutation_p.G673D	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106									p.G1488D(1)									TACAGGGATGCCATCTTTATA	0.358000													4	152					0	0	0.009096	0	0
CDK11B	984	broad.mit.edu	37	1	1572863	1572863	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:1572863C>A	ENST00000407249.3	-	15	1485	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	CDK11B_ENST00000341832.6_Missense_Mutation_p.G449C|CDK11B_ENST00000340677.5_Missense_Mutation_p.G483C|CDK11B_ENST00000317673.7_Missense_Mutation_p.G494C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	506	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.G496C(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						ATGTTGCTGCCCACCACAATC	0.602000													5	44					3.59834e-05	3.73477e-05	0.021553	1	0
CPNE1	8904	broad.mit.edu	37	20	34214192	34214192	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr20:34214192T>C	ENST00000317619.3	-	18	1979	c.1585A>G	c.(1585-1587)Aag>Gag	p.K529E	CPNE1_ENST00000397446.1_Missense_Mutation_p.K529E|CPNE1_ENST00000317677.5_Missense_Mutation_p.K534E|CPNE1_ENST00000397442.1_Missense_Mutation_p.K473E|CPNE1_ENST00000352393.4_Missense_Mutation_p.K529E|CPNE1_ENST00000397443.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397445.1_Missense_Mutation_p.K529E			Q99829	CPNE1_HUMAN	copine I	529					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.K529E(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCAGGATCCTTGGCTGAGGGT	0.627000													88	207					0	0	0.048971	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838795	37838795	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr14:37838795T>A	ENST00000327441.7	+	11	1368	c.902T>A	c.(901-903)cTg>cAg	p.L301Q	MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301								p.L301>?(1)|p.L301Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATGAGACATCTGACTGCTGAA	0.463000													28	50					0	0	0.030593	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962362	69962362	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:69962362A>G	ENST00000305231.7	+	1	170	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.I42V	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	42					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.I42V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATAAAGACAATCCTGGATGA	0.418000													64	141					0	0	0.048971	0	0
PAN2	9924	broad.mit.edu	37	12	56720613	56720613	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:56720613A>G	ENST00000425394.2	-	7	1426	c.1050T>C	c.(1048-1050)tcT>tcC	p.S350S	PAN2_ENST00000257931.5_Silent_p.S350S|PAN2_ENST00000440411.3_Silent_p.S350S|PAN2_ENST00000548043.1_Silent_p.S350S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	350					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S350S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACAGCCCTCAGAATCCCCAA	0.557000													165	205					0	0	0.048971	0	0
ZNF317	57693	broad.mit.edu	37	19	9271246	9271246	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:9271246G>T	ENST00000247956.6	+	7	1230	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	ZNF317_ENST00000360385.3_Missense_Mutation_p.D277Y	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D309>?(1)|p.D309Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTACAAGTGTGATCAGTGCGG	0.577000													38	77					1.00001e-27	1.08417e-27	0.111260	1	0
EFCAB5	374786	broad.mit.edu	37	17	28405458	28405458	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:28405458C>G	ENST00000394835.3	+	15	3155	c.2963C>G	c.(2962-2964)gCt>gGt	p.A988G	EFCAB5_ENST00000320856.5_Missense_Mutation_p.A864G|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	988							calcium ion binding	p.A988G(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCCAATGTGCTGCAGAGACA	0.473000													22	54					0	0	0.055883	0	0
SLC4A8	9498	broad.mit.edu	37	12	51856143	51856143	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:51856143C>T	ENST00000453097.2	+	10	1368	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.A411V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A331V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A331V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A331V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	384					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.A384V(2)|p.A331V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCTCCTGGCGGGGATTGAT	0.458000													33	142					0	0	0.054565	0	0
MOV10	4343	broad.mit.edu	37	1	113217556	113217556	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:113217556C>G	ENST00000413052.2	+	2	412	c.22C>G	c.(22-24)Cgg>Ggg	p.R8G	MOV10_ENST00000369645.1_Missense_Mutation_p.R8G|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R8G|MOV10_ENST00000357443.2_Missense_Mutation_p.R8G|MOV10_ENST00000369644.1_5'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	8					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R8G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTTCAGCTGCCGGCAGCTCCG	0.637000													20	69					0	0	0.030593	0	0
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:135369108G>T	ENST00000368517.3	-	11	853	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.R275R|SYCE1_ENST00000432597.2_Silent_p.R239R	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275					cell division	central element		p.R275R(1)|p.R239R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.587000													9	22					2.17888e-05	2.27226e-05	0.058154	1	0
ICOSLG	23308	broad.mit.edu	37	21	45651249	45651249	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr21:45651249A>C	ENST00000407780.3	-	5	903	c.776T>G	c.(775-777)aTc>aGc	p.I259S	ICOSLG_ENST00000344330.4_Missense_Mutation_p.I259S|ICOSLG_ENST00000400379.3_Missense_Mutation_p.I259S|ICOSLG_ENST00000400377.3_Missense_Mutation_p.I142S	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	259					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	p.I259S(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACAGCCAGGATGCTCCACGT	0.562000													25	45					0	0	0.041601	0	0
COL22A1	169044	broad.mit.edu	37	8	139620181	139620181	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:139620181G>A	ENST00000303045.6	-	57	4476	c.4030C>T	c.(4030-4032)Cct>Tct	p.P1344S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1324S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1344	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1344S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACTCACAGGGGTTCCTGAA	0.532000										HNSCC(7;0.00092)			27	68					0	0	0.030593	0	0
DENND4C	55667	broad.mit.edu	37	9	19296129	19296129	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:19296129A>G	ENST00000380432.2	+	2	250	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DENND4C_ENST00000434457.2_Missense_Mutation_p.T309A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T309A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	73	DENN.					integral to membrane		p.T73A(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCATCAATACAAACAAATG	0.393000													87	169					0	0	0.048971	0	0
PKP4	8502	broad.mit.edu	37	2	159519804	159519804	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:159519804C>T	ENST00000389757.3	+	15	2549	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.I808I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	808					cell adhesion	desmosome	protein binding	p.I808I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGGTCCTATCCCAGGACTGT	0.483000										HNSCC(62;0.18)			21	54					0	0	0.062417	0	0
OGDH	4967	broad.mit.edu	37	7	44736651	44736651	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:44736651G>A	ENST00000222673.5	+	15	2081	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	OGDH_ENST00000449767.1_Missense_Mutation_p.R676Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R631Q|OGDH_ENST00000439616.2_Missense_Mutation_p.R530Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R695Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R691Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	680					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R680Q(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GACGTGGAGCGGGGCACATTC	0.557000													17	108					0	0	0.043863	0	0
INPP5A	3632	broad.mit.edu	37	10	134579295	134579295	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:134579295G>C	ENST00000368594.3	+	12	1199	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	INPP5A_ENST00000368593.3_Missense_Mutation_p.E308Q	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	308					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	p.E308Q(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTTTGACAAGGAGTTGTCTGT	0.502000													25	84					0	0	0.030593	0	0
ATRNL1	26033	broad.mit.edu	37	10	117607452	117607452	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr10:117607452T>G	ENST00000355044.3	+	28	4094	c.3968T>G	c.(3967-3969)tTt>tGt	p.F1323C	ATRNL1_ENST00000423111.2_Missense_Mutation_p.F374C|ATRNL1_ENST00000303745.7_Missense_Mutation_p.F116C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1323						integral to membrane	sugar binding	p.F1323C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGACTGTGTTTCTTTGTCTA	0.473000													30	59					0	0	0.054565	0	0
MASP2	10747	broad.mit.edu	37	1	11097837	11097837	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:11097837A>G	ENST00000400897.3	-	7	936	c.921T>C	c.(919-921)ccT>ccC	p.P307P		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	307	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.P307P(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGTGGCCATTAGGTGGCGCCA	0.507000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	130					0	0	0.083992	0	0
TOP3A	7156	broad.mit.edu	37	17	18196135	18196135	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:18196135T>C	ENST00000321105.5	-	11	1319	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.I274V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	369					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.I369V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGAAAAATGTTTGTTTCT	0.483000													48	86					0	0	0.048971	0	0
DUXAP8	503637	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs143820047	by1000genomes	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393000													4	16					0	0	0.014758	0	0
ACE2	59272	broad.mit.edu	37	X	15599440	15599440	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chrX:15599440T>G	ENST00000427411.1	-	9	1190	c.974A>C	c.(973-975)cAa>cCa	p.Q325P	ACE2_ENST00000252519.3_Missense_Mutation_p.Q325P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	325					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.Q325P(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCAGAATCCTTGAGTCATATT	0.478000													115	81					0	0	0.048971	0	0
CD27	939	broad.mit.edu	37	12	6554303	6554303	+	Silent	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:6554303C>A	ENST00000266557.3	+	1	271	c.42C>A	c.(40-42)acC>acA	p.T14T	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	14					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.T14>?(1)|p.T14T(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TTCTGGGGACCCTGGTGGGGC	0.627000													10	23					0.000442599	0.000455067	0.058154	1	0
HNRNPDL	9987	broad.mit.edu	37	4	83347685	83347685	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:83347685C>T	ENST00000295470.5	-	6	1298	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G256S|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G375S|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like									p.G375S(1)									TCATATCCGCCATAGCCACTA	0.353000													26	75					0	0	0.041601	0	0
ABCC9	10060	broad.mit.edu	37	12	22028606	22028606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:22028606C>G	ENST00000261200.4	-	15	2073	c.2074G>C	c.(2074-2076)Gat>Cat	p.D692H	ABCC9_ENST00000345162.2_Missense_Mutation_p.D656H|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.D692H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D692H(2)|p.D692Y(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTCGAATATCTATATTGGAT	0.308000													21	123					0	0	0.076483	0	0
COMP	1311	broad.mit.edu	37	19	18896789	18896789	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:18896789T>A	ENST00000542601.2	-	12	1765	c.1376A>T	c.(1375-1377)cAg>cTg	p.Q459L	COMP_ENST00000425807.1_Missense_Mutation_p.Q439L|COMP_ENST00000222271.2_Missense_Mutation_p.Q492L			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	492			Missing (in PSACH; severe form).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.Q492L(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGTCCTCCTGGCCGGGGTT	0.711000													17	14					0	0	0.049695	0	0
OR51A2	401667	broad.mit.edu	37	11	4976305	4976305	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:4976305A>G	ENST00000380371.1	-	1	638	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.433000													14	16					0	0	0.043863	0	0
BCL10	8915	broad.mit.edu	37	1	85741980	85741980	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:85741980T>A	ENST00000370580.1	-	1	793	c.56A>T	c.(55-57)gAc>gTc	p.D19V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	19	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.D19V(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTACTCACGTCCTTCTTCAC	0.682000			T	IGH@	MALT								28	99					0	0	0.045705	0	0
FAM169A	26049	broad.mit.edu	37	5	74077398	74077398	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:74077398C>A	ENST00000389156.4	-	13	1990	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y	FAM169A_ENST00000510496.1_Missense_Mutation_p.D574Y|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	634								p.D634Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GAGCTGCTATCCACAGCTTTT	0.458000													59	204					1.27862e-28	1.39312e-28	0.048971	1	0
KEAP1	9817	broad.mit.edu	37	19	10597496	10597496	+	Splice_Site	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:10597496T>C	ENST00000171111.5	-	6	2256		c.e6-2		KEAP1_ENST00000393623.2_Splice_Site	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.?(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATAGCCTCCTGCGGGAAGAA	0.567000													34	40					0	0	0.054565	0	0
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:59271541G>C	ENST00000320743.3	-	15	2463	c.2177C>G	c.(2176-2178)cCt>cGt	p.P726R	LRIG3_ENST00000379141.4_Missense_Mutation_p.P666R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	726	Ig-like C2-type 3.					integral to membrane		p.P726R(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488000			T	ROS1	NSCLC								33	119					0	0	0.050027	0	0
NES	10763	broad.mit.edu	37	1	156639511	156639511	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:156639511T>C	ENST00000368223.3	-	4	4601	c.4469A>G	c.(4468-4470)cAg>cGg	p.Q1490R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1490	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.Q1490R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACTGTCCTGGGACTCCGT	0.587000													20	81					0	0	0.043863	0	0
GTSE1	51512	broad.mit.edu	37	22	46704392	46704392	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr22:46704392C>T	ENST00000454366.1	+	4	526	c.314C>T	c.(313-315)gCt>gTt	p.A105V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.A105V(1)|p.A86V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TACAAAGAAGCTCACTTACTG	0.567000													28	133					0	0	0.108266	0	0
NME4	4833	broad.mit.edu	37	16	449378	449378	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:449378G>A	ENST00000397722.1	+	3	489		c.e3-1		NME4_ENST00000450036.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site|NME4_ENST00000219479.2_Splice_Site			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4						CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.?(1)		NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				ATGCCACCCAGGCACCAGAGA	0.607000													130	282					0	0	0.048971	0	0
CSF1R	1436	broad.mit.edu	37	5	149460456	149460456	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:149460456A>G	ENST00000286301.3	-	3	472	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CSF1R_ENST00000543093.1_Missense_Mutation_p.Y61H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	61	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Y61H(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCAGAGTACAGGGTCCAG	0.612000													15	51					0	0	0.028581	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308488	140308488	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:140308488T>C	ENST00000253807.2	+	1	2011	c.2011T>C	c.(2011-2013)Tgg>Cgg	p.W671R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671R|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2												p.W671R(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATGTCTGGGAACCAGG	0.483000													58	241					0	0	0.048971	0	0
ITPR2	3709	broad.mit.edu	37	12	26492374	26492374	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:26492374C>T	ENST00000381340.3	-	57	8478	c.8062G>A	c.(8062-8064)Gga>Aga	p.G2688R	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2688					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G2688R(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTGTTTGATCCGAGGAAGCCC	0.502000													7	76					0	0	0.047766	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817427	69817427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:69817427C>T	ENST00000251566.4	-	1	82	c.52G>A	c.(52-54)Gtt>Att	p.V18I		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	18						integral to membrane	glucuronosyltransferase activity	p.V18I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACAGCCAACACAGAAGAGC	0.478000													18	65					0	0	0.054565	0	0
TMCO6	55374	broad.mit.edu	37	5	140024591	140024591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr5:140024591C>T	ENST00000394671.3	+	12	1491	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.Q224*|TMCO6_ENST00000252100.6_Nonsense_Mutation_p.Q470*	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	464					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.Q464*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCAGCAGTCAGGGCT	0.542000													97	144					0	0	0.048971	0	0
NAA25	80018	broad.mit.edu	37	12	112499125	112499125	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:112499125G>A	ENST00000261745.4	-	12	1465	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	406						cytoplasm	protein binding	p.A406V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGATGTCAGCAGGCAGTGC	0.458000													33	36					0	0	0.069456	0	0
BAP1	8314	broad.mit.edu	37	3	52440379	52440379	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:52440379C>G	ENST00000460680.1	-	9	1144	c.673G>C	c.(673-675)Gac>Cac	p.D225H	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	225					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D225N(1)|p.D225H(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAGCGGATGTCGTGGTAGGGC	0.632000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							25	21					0	0	0.030593	0	0
XIRP2	129446	broad.mit.edu	37	2	168104737	168104737	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:168104737G>A	ENST00000409195.1	+	9	6924	c.6835G>A	c.(6835-6837)Gag>Aag	p.E2279K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2104					actin cytoskeleton organization	cell junction	actin binding	p.E2279K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTAACCCTGAGAATAATGT	0.413000													36	88					0	0	0.064281	0	0
BTNL2	56244	broad.mit.edu	37	6	32372796	32372796	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:32372796G>A	ENST00000454136.3	-	2	351	c.347C>T	c.(346-348)cCc>cTc	p.P116L	BTNL2_ENST00000429232.2_Missense_Mutation_p.P116L|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.P116L|BTNL2_ENST00000374995.3_Missense_Mutation_p.P116L			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	116	Ig-like V-type 1.					integral to membrane		p.P116L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATTGTCGGAGGGCTGGATGTT	0.488000													36	179					0	0	0.074837	0	0
GNA14	9630	broad.mit.edu	37	9	80262686	80262686	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:80262686G>A	ENST00000341700.6	-	1	537	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	8					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.S8S(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCTCCTCCGCGGACAGGCAGC	0.711000													9	14					0	0	0.069234	0	0
DNM3	26052	broad.mit.edu	37	1	172007570	172007570	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:172007570G>A	ENST00000358155.4	+	7	1137	c.961G>A	c.(961-963)Gac>Aac	p.D321N	DNM3_ENST00000367733.2_Missense_Mutation_p.D321N|DNM3_ENST00000355305.5_Missense_Mutation_p.D321N|DNM3_ENST00000520906.1_Missense_Mutation_p.D321N|DNM3_ENST00000367731.1_Missense_Mutation_p.D321N	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	321					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.D321N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAACCAGAAGACCCAACAAG	0.418000													90	78					0	0	0.048971	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920781	3920781	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:3920781C>T	ENST00000381638.2	-	48	8009	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2629							calcium ion binding|zinc ion binding	p.E2629K(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTAGGCCACTCGGCGAGCAGG	0.577000													21	44					0	0	0.050027	0	0
LETM1	3954	broad.mit.edu	37	4	1824768	1824768	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:1824768C>T	ENST00000302787.2	-	9	1719	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	475					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCTGGATGGCCGCCTCCTCC	0.652000													14	106					0	0	0.105934	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604766	108604766	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:108604766T>C	ENST00000264047.2	+	2	431	c.155T>C	c.(154-156)tTg>tCg	p.L52S	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L52S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	52					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.L52S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATTGGTTTATTGGTTGGTGGA	0.542000													30	76					0	0	0.050027	0	0
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr13:38320157G>A	ENST00000379705.3	-	3	1671	c.814C>T	c.(814-816)Cga>Tga	p.R272*	TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R272*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	272	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.R272*(2)|p.R272R(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTCATCTCGGTAATTAAGA	0.418000													109	281					0	0	0.048971	0	0
VRK3	51231	broad.mit.edu	37	19	50492998	50492998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:50492998G>A	ENST00000599538.1	-	11	1658	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	VRK3_ENST00000601912.1_Missense_Mutation_p.R282C|VRK3_ENST00000594948.1_Missense_Mutation_p.R332C|VRK3_ENST00000601341.1_Missense_Mutation_p.R282C|VRK3_ENST00000316763.3_Missense_Mutation_p.R332C|VRK3_ENST00000594092.1_Missense_Mutation_p.R332C|VRK3_ENST00000377011.2_Missense_Mutation_p.R282C|VRK3_ENST00000593919.1_Missense_Mutation_p.R332C|VRK3_ENST00000443401.2_Missense_Mutation_p.R101C|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	332	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.R332C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCAATAGCGGAAGGCGAAG	0.552000													20	28					0	0	0.062417	0	0
BMX	660	broad.mit.edu	37	X	15574250	15574250	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase.		R -> W (in a lung large cell carcinoma sample; somatic mutation).		cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383000													56	127					0	0	0.048971	0	0
MOS	4342	broad.mit.edu	37	8	57026488	57026488	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:57026488C>T	ENST00000311923.1	-	1	53	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	18							ATP binding|protein binding|protein serine/threonine kinase activity	p.S18S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCGTCCACCGATGGGGAAA	0.697000													12	35					0	0	0.024245	0	0
EFCAB7	84455	broad.mit.edu	37	1	64027423	64027423	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:64027423T>C	ENST00000371088.4	+	11	1638	c.1392T>C	c.(1390-1392)ttT>ttC	p.F464F	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	464							calcium ion binding	p.F464F(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GACAAGGATTTATGGATTTGA	0.318000													5	53					0	0	0.029380	0	0
DNAJC13	23317	broad.mit.edu	37	3	132247081	132247081	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr3:132247081A>G	ENST00000260818.6	+	54	6678	c.6430A>G	c.(6430-6432)Att>Gtt	p.I2144V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2144							heat shock protein binding	p.I2144V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACTCGAAGGCATTGGCCTTGA	0.418000													33	78					0	0	0.041601	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131871	142131871	+	RNA	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:142131871G>A	ENST00000390375.2	-	0	47																											AGGAGCCCGGGGCCCATGGCA	0.607000													48	70					0	0	0.048971	0	0
CBL	867	broad.mit.edu	37	11	119170369	119170369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr11:119170369C>T	ENST00000264033.4	+	16	2975	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	867	Interaction with CD2AP.|UBA.				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	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q867*(1)		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)		CCTCATGAGTCAGGGGTACTC	0.532000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				267	202					0	0	0.048971	0	0
FGGY	55277	broad.mit.edu	37	1	59787249	59787249	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:59787249A>T	ENST00000371218.4	+	2	212	c.28A>T	c.(28-30)Agg>Tgg	p.R10W	FGGY_ENST00000371212.1_Missense_Mutation_p.R10W|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.R10W	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	10					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.R10W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GAAACCAGAGAGGTACTATGT	0.493000													7	24					0	0	0.058154	0	0
WWC2	80014	broad.mit.edu	37	4	184114848	184114848	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr4:184114848C>G	ENST00000403733.3	+	2	427	c.228C>G	c.(226-228)atC>atG	p.I76M	WWC2_ENST00000513834.1_Missense_Mutation_p.I76M|WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Missense_Mutation_p.I76M	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	76	WW 2.							p.I76M(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTACTACATCGATCACATCA	0.423000													16	38					0	0	0.033300	0	0
GP1BA	2811	broad.mit.edu	37	17	4836215	4836215	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:4836215C>A	ENST00000329125.5	+	2	391	c.316C>A	c.(316-318)Caa>Aaa	p.Q106K		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	106								p.Q106K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAATCAGCTGCAAAGCCTGCC	0.612000													57	103					2.30037e-20	2.45747e-20	0.048971	1	0
HNRNPL	3191	broad.mit.edu	37	19	39329230	39329230	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr19:39329230T>C	ENST00000221419.5	-	10	1730	c.1364A>G	c.(1363-1365)aAg>aGg	p.K455R	AC104534.3_ENST00000594769.1_Missense_Mutation_p.S72G|HNRNPL_ENST00000600873.1_Missense_Mutation_p.K322R	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	455	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.K322R(1)|p.K455R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTGGCTGCTTGGAGACACT	0.542000													11	66					0	0	0.105934	0	0
KCNV2	169522	broad.mit.edu	37	9	2718088	2718088	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:2718088G>A	ENST00000382082.3	+	1	587	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGAGCTGGCCGGCTTCCCCAA	0.667000													4	19					0	0	0.009096	0	0
KPNB1	3837	broad.mit.edu	37	17	45750422	45750422	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr17:45750422A>G	ENST00000290158.4	+	13	1993	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	KPNB1_ENST00000537679.1_Missense_Mutation_p.Y313C|KPNB1_ENST00000540627.1_Missense_Mutation_p.Y384C|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y384C	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	529					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.Y529C(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGTTCTGCATATGAATCTCTG	0.423000													39	67					0	0	0.086207	0	0
EXOSC10	5394	broad.mit.edu	37	1	11141199	11141200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11141199_11141200insC	ENST00000544779.1	-	11	1381_1382	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.G459fs|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.G459fs			Q01780	EXOSX_HUMAN	exosome component 10	459					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGCCCGTTGCCGCGCTCCCA	0.604													20	102	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													5	3	---	---	---	---					
XPR1	9213	broad.mit.edu	37	1	180843056	180843056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843056delT	ENST00000367590.4	+	13	1984	c.1786delT	c.(1786-1788)tttfs	p.F596fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.F531fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	596	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCTACTGTCTTTGCCCCACT	0.368													39	51	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201982385	201982389	+	Frame_Shift_Del	DEL	AAGAG	AAGAG	-	rs137861501		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:201982385_201982389delAAGAG	ENST00000359651.3	+	6	3956_3960	c.764_768delAAGAG	c.(763-768)aaagagfs	p.KE255fs	ELF3_ENST00000367283.3_Frame_Shift_Del_p.KE255fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.KE255fs|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	255					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCTGAGCAAAGAGTACTGGGACT	0.644													66	71	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34041837	34041838	+	RNA	INS	-	-	CCTCC	rs140516377	by1000genomes	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.480													2	4	---	---	---	---					
PNPT1	87178	broad.mit.edu	37	2	55895089	55895089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895089delT	ENST00000447944.2	-	12	1067	c.981delA	c.(979-981)aaafs	p.K327fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	327					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCTGGAAATTTTTCTATAG	0.284													19	65	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60173938	60173939	+	RNA	INS	-	-	TG	rs72158163	by1000genomes	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:60173938_60173939insTG	ENST00000606382.1	-	0	110																											TTGTGTTTGATtgtgtgtgtgt	0.450													2	4	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129498972	129498972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:129498972delC	ENST00000421865.2	+	10	1477	c.1428delC	c.(1426-1428)agcfs	p.S476fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	476	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTTAGGGAGCAAAAATGAGG	0.478													37	83	---	---	---	---					
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs68053451		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:66762433delA	ENST00000414507.1	-	0	184																											tctcaaaaagaaaaaaaaaaa	0.408													2	4	---	---	---	---					
CPA2	1358	broad.mit.edu	37	7	129919306	129919318	+	Frame_Shift_Del	DEL	CTGGAGCCAGCAG	CTGGAGCCAGCAG	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:129919306_129919318delCTGGAGCCAGCAG	ENST00000222481.4	+	9	846_858	c.791_803delCTGGAGCCAGCAG	c.(790-804)cctggagccagcagcfs	p.PGASS264fs		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	264					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC	0.502													7	84	---	---	---	---					
IMPAD1	54928	broad.mit.edu	37	8	57905985	57906000	+	Frame_Shift_Del	DEL	CCGCGGGCCCCGCCGC	CCGCGGGCCCCGCCGC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC	ENST00000262644.4	-	1	403_418	c.145_160delGCGGCGGGGCCCGCGG	c.(145-162)gcggcggggcccgcggccfs	p.AAGPAA49fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	49						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	p.A53A(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TcggccgcggccgcgggccccgccgcgccgccgccA	0.745													5	9	---	---	---	---					
RALGDS	5900	broad.mit.edu	37	9	135977871	135977872	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:135977871_135977872insCGCT	ENST00000393160.3	-	14	2188_2189	c.1835_1836insAGCG	c.(1834-1836)cgcfs	p.-612fs	RALGDS_ENST00000372062.3_Frame_Shift_Ins_p.-638fs|RALGDS_ENST00000372050.3_Frame_Shift_Ins_p.-667fs|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Frame_Shift_Ins_p.-655fs|RALGDS_ENST00000393157.3_Frame_Shift_Ins_p.-666fs|RALGDS_ENST00000542690.1_Frame_Shift_Ins_p.-738fs	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGCTCCAGCGCTTGACAAT	0.629			T	CIITA	"""PMBL, Hodgkin Lymphona, """								19	154	---	---	---	---					
BBS10	79738	broad.mit.edu	37	12	76742124	76742126	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:76742124_76742126delCAT	ENST00000393262.3	-	1	96_98	c.13_15delATG	c.(13-15)atgdel	p.M5del		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	5					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAGCGGCCATAGAACTTAAC	0.611									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25169014	25169015	+	RNA	INS	-	-	TAG			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:25169014_25169015insTAG	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							actgactggaaagagagttagg	0.470													11	13	---	---	---	---					
CDADC1	81602	broad.mit.edu	37	13	49833659	49833660	+	Splice_Site	INS	-	-	GTAA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:49833659_49833660insGTAA	ENST00000251108.6	+	4	543	c.430_430insGTAA	c.(430-432)gct>GTAAgct	p.A144fs	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Splice_Site_p.G144fs	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	144							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATTGTAAATGGTAAGTGCAGA	0.426													16	155	---	---	---	---					
PMFBP1	83449	broad.mit.edu	37	16	72205093	72205101	+	Splice_Site	DEL	TACCTCATC	TACCTCATC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:72205093_72205101delTACCTCATC	ENST00000537465.1	-	2	165_171	c.7_13delGATGAGGTA	c.(7-15)gatgaggta>ta	p.DEV3del	PMFBP1_ENST00000237353.10_Splice_Site_p.DEV3del|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	3										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTAGGAGCCTTACCTCATCTTTCATTTCC	0.330													14	179	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21437864	21437877	+	Frame_Shift_Del	DEL	GCTTTCCTGAGTGT	GCTTTCCTGAGTGT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437864_21437877delGCTTTCCTGAGTGT	ENST00000313654.9	+	33	4434_4447	c.4193_4206delGCTTTCCTGAGTGT	c.(4192-4206)cgctttcctgagtgtfs	p.RFPEC1398fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RFPEC1398fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1398	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA	0.519													53	105	---	---	---	---					
ME2	4200	broad.mit.edu	37	18	48450474	48450480	+	Frame_Shift_Del	DEL	AAAGCAA	AAAGCAA	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:48450474_48450480delAAAGCAA	ENST00000321341.5	+	11	1335_1341	c.1063_1069delAAAGCAA	c.(1063-1071)aaagcaaaafs	p.KAK355fs	ME2_ENST00000382927.3_Frame_Shift_Del_p.KAK355fs	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	355					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTAGGGACGGAAAGCAAAAATAGATAG	0.314													38	60	---	---	---	---					
EXOSC10	5394	broad.mit.edu	37	1	11141199	11141200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:11141199_11141200insC	ENST00000544779.1	-	11	1381_1382	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.G459fs|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.G459fs			Q01780	EXOSX_HUMAN	exosome component 10	459					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGCCCGTTGCCGCGCTCCCA	0.604													20	102	---	---	---	---					
XPR1	9213	broad.mit.edu	37	1	180843056	180843056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:180843056delT	ENST00000367590.4	+	13	1984	c.1786delT	c.(1786-1788)tttfs	p.F596fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.F531fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	596	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCTACTGTCTTTGCCCCACT	0.368													39	51	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201982385	201982389	+	Frame_Shift_Del	DEL	AAGAG	AAGAG	-	rs137861501		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr1:201982385_201982389delAAGAG	ENST00000359651.3	+	6	3956_3960	c.764_768delAAGAG	c.(763-768)aaagagfs	p.KE255fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.KE255fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.KE255fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	255					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCTGAGCAAAGAGTACTGGGACT	0.644													66	71	---	---	---	---					
PNPT1	87178	broad.mit.edu	37	2	55895089	55895089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr2:55895089delT	ENST00000447944.2	-	12	1067	c.981delA	c.(979-981)aaafs	p.K327fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	327					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCTGGAAATTTTTCTATAG	0.284													19	65	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129498972	129498972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr6:129498972delC	ENST00000421865.2	+	10	1477	c.1428delC	c.(1426-1428)agcfs	p.S476fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	476	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTTAGGGAGCAAAAATGAGG	0.478													37	83	---	---	---	---					
CPA2	1358	broad.mit.edu	37	7	129919306	129919318	+	Frame_Shift_Del	DEL	CTGGAGCCAGCAG	CTGGAGCCAGCAG	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr7:129919306_129919318delCTGGAGCCAGCAG	ENST00000222481.4	+	9	846_858	c.791_803delCTGGAGCCAGCAG	c.(790-804)cctggagccagcagcfs	p.PGASS264fs		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	264					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC	0.502													7	84	---	---	---	---					
IMPAD1	54928	broad.mit.edu	37	8	57905985	57906000	+	Frame_Shift_Del	DEL	CCGCGGGCCCCGCCGC	CCGCGGGCCCCGCCGC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC	ENST00000262644.4	-	1	403_418	c.145_160delGCGGCGGGGCCCGCGG	c.(145-162)gcggcggggcccgcggccfs	p.AAGPAA49fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	49						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	p.A53A(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TcggccgcggccgcgggccccgccgcgccgccgccA	0.745													5	9	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98278973	98278975	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:98278973_98278975delCTC	ENST00000375274.2	-	1	272_274	c.128_130delGAG	c.(127-132)ggagaa>gaa	p.G43del	PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000430669.2_5'UTR			Q13635	PTC1_HUMAN	patched 1	0					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G43E(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				tcttcttcttctcctcctcctcc	0.567													25	135	---	---	---	---					
RALGDS	5900	broad.mit.edu	37	9	135977871	135977872	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr9:135977871_135977872insCGCT	ENST00000393160.3	-	14	2188_2189	c.1835_1836insAGCG	c.(1834-1836)cgcfs	p.-612fs	RALGDS_ENST00000393157.3_Frame_Shift_Ins_p.-666fs|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Frame_Shift_Ins_p.-738fs|RALGDS_ENST00000372047.3_Frame_Shift_Ins_p.-655fs|RALGDS_ENST00000372050.3_Frame_Shift_Ins_p.-667fs|RALGDS_ENST00000372062.3_Frame_Shift_Ins_p.-638fs	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGCTCCAGCGCTTGACAAT	0.629			T	CIITA	"""PMBL, Hodgkin Lymphona, """								19	154	---	---	---	---					
BBS10	79738	broad.mit.edu	37	12	76742124	76742126	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr12:76742124_76742126delCAT	ENST00000393262.3	-	1	96_98	c.13_15delATG	c.(13-15)atgdel	p.M5del		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	5					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAGCGGCCATAGAACTTAAC	0.611									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18	---	---	---	---					
CDADC1	81602	broad.mit.edu	37	13	49833659	49833660	+	Splice_Site	INS	-	-	GTAA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr13:49833659_49833660insGTAA	ENST00000251108.6	+	4	543	c.430_430insGTAA	c.(430-432)gct>GTAAgct	p.A144fs	CDADC1_ENST00000538056.1_Splice_Site_p.G144fs|CDADC1_ENST00000444959.1_Intron	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	144							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATTGTAAATGGTAAGTGCAGA	0.426													16	155	---	---	---	---					
SOX21-AS1	100507533	broad.mit.edu	37	13	95366861	95366862	+	RNA	DEL	CA	CA	-	rs112970377		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr13:95366861_95366862delCA	ENST00000438290.2	+	0	1648_1649					NR_046514.1																						TCAGTTCATTcacacacacaca	0.381													3	3	---	---	---	---					
PMFBP1	83449	broad.mit.edu	37	16	72205093	72205101	+	Splice_Site	DEL	TACCTCATC	TACCTCATC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr16:72205093_72205101delTACCTCATC	ENST00000537465.1	-	2	165_171	c.7_13delGATGAGGTA	c.(7-15)gatgaggta>ta	p.DEV3del	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000237353.10_Splice_Site_p.DEV3del			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	3										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTAGGAGCCTTACCTCATCTTTCATTTCC	0.330													14	179	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21437864	21437877	+	Frame_Shift_Del	DEL	GCTTTCCTGAGTGT	GCTTTCCTGAGTGT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr18:21437864_21437877delGCTTTCCTGAGTGT	ENST00000313654.9	+	33	4434_4447	c.4193_4206delGCTTTCCTGAGTGT	c.(4192-4206)cgctttcctgagtgtfs	p.RFPEC1398fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RFPEC1398fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1398	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA	0.519													53	105	---	---	---	---					
ME2	4200	broad.mit.edu	37	18	48450474	48450480	+	Frame_Shift_Del	DEL	AAAGCAA	AAAGCAA	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-11A-13D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	d2eebe5e-f58c-4240-b12c-c84353fddc49	g.chr18:48450474_48450480delAAAGCAA	ENST00000321341.5	+	11	1335_1341	c.1063_1069delAAAGCAA	c.(1063-1071)aaagcaaaafs	p.KAK355fs	ME2_ENST00000382927.3_Frame_Shift_Del_p.KAK355fs	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	355					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTAGGGACGGAAAGCAAAAATAGATAG	0.314													38	60	---	---	---	---					
