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
LSAMP	4045	broad.mit.edu	37	3	115560734	115560734	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:115560734C>T	ENST00000490035.2	-	6	1376	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	LSAMP_ENST00000539563.1_Missense_Mutation_p.A290T|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGCTTGTTGGCAGCCACACAG	0.507000													11	51					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86393760	86393760	+	Silent	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:86393760G>C	ENST00000410111.3	-	7	1050	c.663C>G	c.(661-663)gcC>gcG	p.A221A	IMMT_ENST00000442664.2_Silent_p.A220A|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Silent_p.A174A|IMMT_ENST00000254636.5_Silent_p.A122A|IMMT_ENST00000449247.2_Silent_p.A210A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	221						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAAGCTCTTGGCTAGAGCTT	0.418000													19	20					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14746986	14746986	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:14746986C>G	ENST00000380881.4	-	35	6891	c.6076G>C	c.(6076-6078)Gaa>Caa	p.E2026Q	FREM1_ENST00000380894.1_Missense_Mutation_p.E561Q|FREM1_ENST00000422223.2_Missense_Mutation_p.E2025Q|FREM1_ENST00000380880.3_Missense_Mutation_p.E2025Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2025					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGATGCCTTCTTCAAAATGG	0.473000													5	11					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	377242	377242	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:377242C>G	ENST00000217233.3	+	4	1538	c.985C>G	c.(985-987)Ctc>Gtc	p.L329V	TRIB3_ENST00000422053.2_Missense_Mutation_p.L356V	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	329					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCGATCCCATCTCTGGGAGGC	0.642000													22	43					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787601	73787601	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:73787601G>T	ENST00000342056.2	+	5	1307	c.909G>T	c.(907-909)tgG>tgT	p.W303C	KCNQ5_ENST00000355194.4_Missense_Mutation_p.W303C|KCNQ5_ENST00000414165.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000370392.1_Missense_Mutation_p.W303C|KCNQ5_ENST00000403813.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000370398.1_Missense_Mutation_p.W303C|KCNQ5_ENST00000402622.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000355635.3_Missense_Mutation_p.W303C	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	303					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGCTCTCTGGTGGGGCACAG	0.323000													22	44					1.22574e-08	1.28114e-08	1	1	0
C2orf76	130355	broad.mit.edu	37	2	120078732	120078732	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:120078732T>C	ENST00000409466.2	-	4	703	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	C2orf76_ENST00000334816.7_Missense_Mutation_p.Y61C|C2orf76_ENST00000409877.1_Missense_Mutation_p.Y61C|C2orf76_ENST00000409523.1_Missense_Mutation_p.Y61C			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	61										large_intestine(1)|lung(3)|pancreas(1)	5						atGGTTACCATATTTATAATT	0.249000													12	23					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90744713	90744713	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:90744713C>T	ENST00000354366.3	-	14	3694	c.3462G>A	c.(3460-3462)ccG>ccA	p.P1154P	NRDE2_ENST00000357904.3_Silent_p.P923P	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing									p.P1154P(1)									GCTCCTCCAGCGGCAGGCGCA	0.637000													5	21					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135594161	135594161	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:135594161G>A	ENST00000535601.1	+	10	2679	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D753N	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	753	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGATGACGATGATATTTA	0.448000													36	13					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677174	7677174	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:7677174G>C	ENST00000446248.2	+	13	1977	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E599Q	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	599					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGAGCTCGGAGATGAGTGA	0.657000													4	7					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50173542	50173542	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:50173542G>C	ENST00000246785.3	+	6	1009	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Missense_Mutation_p.E250Q	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	251					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGCCTGGTGGAGCTGTTCTG	0.711000													4	7					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4362347	4362347	+	Missense_Mutation	SNP	G	G	A	rs149527990		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:4362347G>A	ENST00000269886.3	-	9	1067	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SH3GL1_ENST00000598564.1_Missense_Mutation_p.R233W|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R249W	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	297					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTAGGGGTCCGGATGGGCTTG	0.612000			T	MLL	AL								8	13					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100390	27100390	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:27100390G>A	ENST00000324856.7	+	17	4472		c.e17+1		ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAACAGCAGGTGAGGAGGGT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								134	67					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036289	21036289	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:21036289C>T	ENST00000247986.2	-	4	823	c.513G>A	c.(511-513)gtG>gtA	p.V171V	KIF17_ENST00000400463.3_Silent_p.V171V|KIF17_ENST00000375044.1_Silent_p.V71V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	171	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACAGCCCCTTCACGTACACGC	0.607000													10	26					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665710	37665710	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr21:37665710C>T	ENST00000399151.3	+	37	6823	c.6738C>T	c.(6736-6738)ttC>ttT	p.F2246F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2246					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGATGCCATTCTTCATGACTC	0.478000													40	58					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49644694	49644694	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:49644694G>A	ENST00000334186.4	+	19	2735	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E796K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	796						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCTCAGATGAGACACTGGC	0.552000													11	34					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033565	26033565	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:26033565G>T	ENST00000259791.2	-	1	231	c.232C>A	c.(232-234)Cgc>Agc	p.R78S		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	78					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGATGATGCGGGTCTTCTTG	0.632000													30	79					3.90053e-15	4.21987e-15	1	1	0
CYP2A6	1548	broad.mit.edu	37	19	41354268	41354268	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:41354268G>A	ENST00000301141.5	-	4	530	c.510C>T	c.(508-510)ccC>ccT	p.P170P	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	170					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGAAGAAGGTGGGATCGATAT	0.552000													36	58					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2729517	2729517	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:2729517C>T	ENST00000382082.3	+	2	1666	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	476						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)		TTGCCTTCCTCTGCATTGCTT	0.483000													6	21					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70340864	70340864	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:70340864G>C	ENST00000333646.6	+	5	796	c.597G>C	c.(595-597)caG>caC	p.Q199H	MED12_ENST00000374102.1_Missense_Mutation_p.Q199H|MED12_ENST00000374080.3_Missense_Mutation_p.Q199H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	199					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCAGTTACAGAAGATGGCTG	0.507000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						35	12					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69516995	69516995	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:69516995A>G	ENST00000374403.3	+	4	465	c.383A>G	c.(382-384)aAa>aGa	p.K128R	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Missense_Mutation_p.K128R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	128	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAATTGATAAAAAGAGTGAC	0.343000													9	5					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864529	30864529	+	Missense_Mutation	SNP	C	C	T	rs115812777	by1000genomes	TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr22:30864529C>T	ENST00000403066.1	-	6	495	c.212G>A	c.(211-213)cGc>cAc	p.R71H	SEC14L3_ENST00000401751.1_Missense_Mutation_p.R71H|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R130H|SEC14L3_ENST00000415957.2_Missense_Mutation_p.R71H|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R71H|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R53H|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R53H			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	130						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATGCAGGATGCGCTCACAGTC	0.602000													25	38					0	0	1	0	0
MRPS6	64968	broad.mit.edu	37	21	35514865	35514865	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr21:35514865G>A	ENST00000399312.2	+	3	521	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	115					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						CCCACTCGCAGAAAAATTATA	0.418000													19	21					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576	by1000genomes	TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:17083652C>T	ENST00000455405.2	-	0	936																											aaatctcaaccttgagtacaa	0.388000													4	31					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348375	101348375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:101348375G>T	ENST00000534062.1	-	1	2809	c.2751C>A	c.(2749-2751)taC>taA	p.Y917*		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	917										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCGCTTGAGAGTACTCAACCT	0.562000													5	16					0.000602214	0.000608796	1	1	0
C12orf5	57103	broad.mit.edu	37	12	4461585	4461585	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:4461585A>G	ENST00000179259.4	+	6	608	c.541A>G	c.(541-543)Aat>Gat	p.N181D		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	181						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTAAAGTTAATTCAGACAG	0.398000													47	52					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850702	71850702	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:71850702T>A	ENST00000445078.2	+	5	756	c.685T>A	c.(685-687)Tgt>Agt	p.C229S	FOLR3_ENST00000442948.2_Missense_Mutation_p.C188S|FOLR3_ENST00000456237.1_Missense_Mutation_p.C231S			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	187					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGCCGCCCTTTGTGAAGGCCT	0.592000													26	38					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486310	94486310	+	Silent	SNP	G	G	A	rs146432734		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:94486310G>A	ENST00000375708.3	-	9	2664	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	822	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.N822N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGGTAGCCGTTGACGGGGA	0.662000													51	12					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490079	100490079	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:100490079G>A	ENST00000302913.4	-	3	1567	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ACHE_ENST00000411582.1_Missense_Mutation_p.P477S|ACHE_ENST00000241069.5_Missense_Mutation_p.P477S|ACHE_ENST00000419336.2_Missense_Mutation_p.P389S|ACHE_ENST00000412389.1_Missense_Mutation_p.P477S|ACHE_ENST00000428317.1_Missense_Mutation_p.P477S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	477					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TAGCCGTGGGGCACCCCCATC	0.622000													14	23					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574699	60574699	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:60574699G>A	ENST00000406854.1	+	2	897	c.343G>A	c.(343-345)Gag>Aag	p.E115K	PCNXL4_ENST00000404681.2_Missense_Mutation_p.E115K|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.E115K					pecanex-like 4 (Drosophila)																		AGAGGAGGATGAGCATGAATT	0.373000													5	20					0	0	1	0	0
C19orf43	79002	broad.mit.edu	37	19	12842168	12842168	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:12842168G>A	ENST00000242784.4	-	2	530	c.413C>T	c.(412-414)aCg>aTg	p.T138M	C19orf43_ENST00000588213.1_Silent_p.D130D|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	138										endometrium(2)|large_intestine(2)	4						CTCATCCTCCGTCTTCTGCTT	0.577000													26	32					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745221	23745221	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:23745221C>T	ENST00000357460.5	-	2	1380	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	HOMEZ_ENST00000561013.1_Missense_Mutation_p.D408N|HOMEZ_ENST00000431326.2_Missense_Mutation_p.D408N	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TAGCGTGTGTCACCAAACCAC	0.498000													6	19					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000591	160000591	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:160000591G>A	ENST00000368090.2	-	1	1192	c.939C>T	c.(937-939)ctC>ctT	p.L313L		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	313					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACAAAAAACGAGGTCTCTGT	0.443000													30	58					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5924052	5924052	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:5924052G>A	ENST00000378156.4	-	29	4303	c.4038C>T	c.(4036-4038)gtC>gtT	p.V1346V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1346					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCTTGTTGACACCCTTCC	0.632000													24	15					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326943	28326943	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:28326943G>A	ENST00000354638.3	-	2	233	c.78C>T	c.(76-78)agC>agT	p.S26S	OCA2_ENST00000353809.5_Silent_p.S26S|OCA2_ENST00000382996.2_Silent_p.S26S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	26					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCGAGTCCGCTGGGCACGG	0.706000									Oculocutaneous Albinism				17	24					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2729539	2729539	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:2729539C>A	ENST00000382082.3	+	2	1688	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	484						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)		TGGGATCATTCTCAACGGGAT	0.502000													4	24					0.00909568	0.00909568	1	1	0
POLE	5426	broad.mit.edu	37	12	133257224	133257224	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:133257224T>C	ENST00000320574.5	-	3	297	c.254A>G	c.(253-255)tAc>tGc	p.Y85C	POLE_ENST00000535270.1_Intron	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	85					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TTGAATAAAGTAGTAATCCAC	0.438000								DNA polymerases (catalytic subunits)					43	92					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65628271	65628271	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:65628271G>A	ENST00000580974.1	+	6	1075	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PITPNC1_ENST00000335257.6_Missense_Mutation_p.E127K|PITPNC1_ENST00000581322.1_Missense_Mutation_p.E127K|PITPNC1_ENST00000299954.9_Missense_Mutation_p.E127K	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	127					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TTTCGACAATGAAGCCAAAGA	0.448000													39	5					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189926325	189926325	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:189926325C>G	ENST00000374866.3	-	30	2268	c.1994G>C	c.(1993-1995)aGa>aCa	p.R665T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	665					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGTTCTCCTCTTTCACCAGC	0.383000													9	35					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34302110	34302110	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:34302110C>G	ENST00000361162.6	-	11	1477	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	RBM39_ENST00000528062.3_Missense_Mutation_p.E343Q|RBM39_ENST00000253363.6_Missense_Mutation_p.E365Q|RBM39_ENST00000407261.4_Missense_Mutation_p.E208Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	365	Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CACTTACCCTCTGCAAGTCTT	0.388000													5	69					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895665	42895665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:42895665C>T	ENST00000399770.2	+	1	382	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	128	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAAAGTATTACAGGTAAGTCA	0.408000													18	70					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:7577547C>T	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	70					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768548	81768548	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:81768548C>G	ENST00000550584.2	-	10	1427		c.e10-1		PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCTTCCATCTGAAATGGGA	0.448000													11	43					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886082	88886082	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:88886082C>T	ENST00000319675.3	-	1	214	c.118G>A	c.(118-120)Gcc>Acc	p.A40T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	40										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAATAGTTGGCGAATCTGAGG	0.522000													25	59					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600014	28600014	+	RNA	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:28600014C>T	ENST00000568624.1	-	0	393																											GAACCTGGGCCTTTGGGAGAA	0.488000													24	100					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25229116	25229116	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:25229116C>T	ENST00000399916.1	-	6	1225	c.787G>A	c.(787-789)Gac>Aac	p.D263N	RUNX3_ENST00000308873.6_Missense_Mutation_p.D249N|RUNX3_ENST00000338888.3_Missense_Mutation_p.D263N|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Missense_Mutation_p.D156N	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	249	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		AAGGAGCGGTCAAACTGGCGG	0.637000													35	137					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33541642	33541642	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:33541642G>C	ENST00000374467.3	-	6	822	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V	BAK1_ENST00000442998.2_3'UTR|BAK1_ENST00000360661.5_Missense_Mutation_p.L192V	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	192					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						AGAACCACCAGCACGTTCAGG	0.562000													16	22					0	0	1	0	0
FXYD6	53826	broad.mit.edu	37	11	117712529	117712529	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:117712529G>A	ENST00000526014.1	-	4	744	c.149C>T	c.(148-150)tCg>tTg	p.S50L	FXYD6_ENST00000584394.1_Missense_Mutation_p.S50L|FXYD6_ENST00000529335.2_Missense_Mutation_p.S49L|FXYD6_ENST00000260282.4_Missense_Mutation_p.S50L|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.S50L|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000539526.1_Missense_Mutation_p.S50L|FXYD6_ENST00000584230.1_Missense_Mutation_p.S50L|FXYD6_ENST00000530956.1_Missense_Mutation_p.S50L|FXYD6_ENST00000527717.1_Missense_Mutation_p.S50L|FXYD6_ENST00000524656.1_Missense_Mutation_p.S50L|FXYD6_ENST00000540359.1_Missense_Mutation_p.S50L|FXYD6_ENST00000527429.1_Missense_Mutation_p.S50L	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GATCCCAACCGAGAAGAGGAC	0.532000													19	35					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45636	45636	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:45636G>C	ENST00000327669.4	-	1	749	c.750C>G	c.(748-750)agC>agG	p.S250R		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	250						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGACGCTCACGCTGCGCACCT	0.692000													8	5					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897317	130897317	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:130897317C>T	ENST00000261655.4	-	15	2831	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	890	SH3 2.					cell junction|synapse		p.D890Y(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATCAGCGTCTTTATCACCA	0.448000													19	17					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791271	60791271	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:60791271G>A	ENST00000340177.5	-	3	1413	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L	HRH3_ENST00000317393.6_Silent_p.L377L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	377					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	ATGATCATCAGCAGCGTGTAT	0.617000													10	6					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378016	67378016	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:67378016G>A	ENST00000322776.6	+	5	828	c.675G>A	c.(673-675)ctG>ctA	p.L225L	NDUFV1_ENST00000532303.1_Silent_p.L124L|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.L216L|NDUFV1_ENST00000415352.2_Silent_p.L218L	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	225					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	AGCCCCGCCTGAAGCCCCCCT	0.617000													21	32					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104074323	104074323	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:104074323C>G	ENST00000265148.3	-	25	3207	c.3118G>C	c.(3118-3120)Gag>Cag	p.E1040Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1015Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1040					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTGTTGCTCAATTATCTCA	0.323000													23	36					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356654	37356654	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:37356654A>G	ENST00000217420.1	+	2	1213	c.950A>G	c.(949-951)tAc>tGc	p.Y317C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	317					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTGTTCAGCTACACGTCTCAG	0.567000													16	54					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113141679	113141679	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:113141679C>T	ENST00000401783.2	-	44	10692	c.10356G>A	c.(10354-10356)ctG>ctA	p.L3452L	SVEP1_ENST00000297826.5_Silent_p.L1378L|SVEP1_ENST00000374469.1_Silent_p.L3429L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3452	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAACACTCCTCAGGAAACCCT	0.398000													31	9					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125731504	125731504	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:125731504C>G	ENST00000383598.2	-	8	1266	c.981G>C	c.(979-981)caG>caC	p.Q327H	SLC41A3_ENST00000360370.4_Missense_Mutation_p.Q353H|SLC41A3_ENST00000508835.1_Missense_Mutation_p.Q236H|SLC41A3_ENST00000315891.6_Missense_Mutation_p.Q353H|SLC41A3_ENST00000346785.5_Missense_Mutation_p.Q317H	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	353						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		ATTTCTTCATCTGGAGGGGCA	0.512000													66	54					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824635	34824635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:34824635C>T	ENST00000192788.5	+	11	1531	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q454*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	454			Q -> R (in dbSNP:rs11755393).							breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGCCTTTCAGCCTCCAGC	0.502000													33	45					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38516466	38516466	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:38516466G>A	ENST00000356264.2	-	6	715	c.500C>T	c.(499-501)tCt>tTt	p.S167F	AMPH_ENST00000428293.2_Missense_Mutation_p.S167F|AMPH_ENST00000325590.5_Missense_Mutation_p.S167F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	167	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCTACCTTAGAGATTCGACT	0.478000													21	18					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84961607	84961607	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:84961607C>G	ENST00000370654.5	+	7	757	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	248	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGAAATAATTCTGAATAATTT	0.383000													22	41					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57597142	57597142	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:57597142C>G	ENST00000340339.4	+	4	803	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L94V	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	94					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CAGTGCCACTCTGAAGCGGGT	0.602000													35	54					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006031	72006031	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:72006031G>A	ENST00000370435.4	+	4	546	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	138						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGTTTACATTGAAGAAGTTCT	0.299000													17	69					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17952470	17952470	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:17952470C>T	ENST00000381254.2	+	7	932	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R240W	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	240					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGGTTTAATCGGTGGAATGA	0.373000								Homologous recombination					12	40					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137574	1137574	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:1137574C>T	ENST00000397203.2	+	2	911	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	ERC1_ENST00000543086.3_Missense_Mutation_p.R169W|ERC1_ENST00000589028.1_Missense_Mutation_p.R169W|ERC1_ENST00000355446.5_Missense_Mutation_p.R169W|ERC1_ENST00000546231.2_Missense_Mutation_p.R169W|ERC1_ENST00000360905.4_Missense_Mutation_p.R169W			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	169					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGATCTCTTGCGGAAGGATGT	0.463000													26	49					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742178	41742178	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr22:41742178A>G	ENST00000352645.4	+	14	1888	c.1631A>G	c.(1630-1632)aAg>aGg	p.K544R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K544R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	560					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCTCCTGAAGGAGCACCAG	0.657000													13	33					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133245252	133245252	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:133245252C>T	ENST00000320574.5	-	18	2038	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R	POLE_ENST00000535270.1_Silent_p.R638R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	665					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGCCATCTTCCGCTGGCAGT	0.627000								DNA polymerases (catalytic subunits)					23	29					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118404576	118404576	+	RNA	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:118404576G>C	ENST00000537242.1	+	0	1401				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CACTGTGGAAGAAAACGTCTT	0.408000													8	20					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160813127	160813127	+	Silent	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:160813127C>G	ENST00000283243.7	-	21	3122	c.2916G>C	c.(2914-2916)ctG>ctC	p.L972L	PLA2R1_ENST00000392771.1_Silent_p.L972L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	972	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGGGGATATTCAGCAGAAGGC	0.413000													34	42					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492997	21492997	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:21492997C>T	ENST00000377142.4	-	2	742	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	129					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCGCCGCTTTCGCTTCTTGCC	0.687000													4	4					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184061	72184061	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:72184061C>G	ENST00000340726.3	-	10	1537	c.898G>C	c.(898-900)Gat>Cat	p.D300H	EYA1_ENST00000388741.2_Missense_Mutation_p.D266H|EYA1_ENST00000388742.4_Missense_Mutation_p.D300H|EYA1_ENST00000388740.3_Missense_Mutation_p.D267H|EYA1_ENST00000419131.1_Missense_Mutation_p.D295H|EYA1_ENST00000303824.7_Missense_Mutation_p.D294H|EYA1_ENST00000388743.2_Missense_Mutation_p.D299H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	300					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GATTTCCCATCTGAACCTCGA	0.463000													92	106					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4856041	4856041	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:4856041C>T	ENST00000399583.3	-	8	1971	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	RADIL_ENST00000536091.1_Silent_p.A541A|RADIL_ENST00000538469.1_Missense_Mutation_p.R355H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCTCACGGCGCTCCGTCTG	0.677000													8	7					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658345	46658345	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:46658345G>A	ENST00000544460.1	+	1	2734	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.R827Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	827	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGGCTAAGCGAACAGTAAAC	0.398000													11	77					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277734	36277734	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:36277734G>A	ENST00000007510.4	+	20	2506	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	ARHGAP33_ENST00000314737.5_Intron|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A652T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	788					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CACCAGCCCCGCCTCGCCTGC	0.726000													2	1					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6703405	6703405	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:6703405G>A	ENST00000338694.2	-	8	1327	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	TEKT1_ENST00000535086.1_Missense_Mutation_p.R254W	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	400					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCCCATCCCGAAGTGGGATG	0.512000													17	97					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237863742	237863742	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:237863742G>T	ENST00000366574.2	+	65	9659	c.9342G>T	c.(9340-9342)caG>caT	p.Q3114H	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q3112H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q3098H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3114					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATTGGCCAGCATCAGTTCG	0.378000													10	5					0.000673444	0.000677104	1	1	0
THRB	7068	broad.mit.edu	37	3	24188225	24188225	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:24188225C>T	ENST00000396671.2	-	7	821	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	THRB_ENST00000356447.4_Missense_Mutation_p.R158Q|THRB_ENST00000416420.1_Missense_Mutation_p.R158Q|THRB_ENST00000280696.5_Missense_Mutation_p.R173Q	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	158					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCACTGATTTCGCGTGACTTT	0.363000													20	83					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53298806	53298806	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:53298806G>A	ENST00000552150.1	-	2	63	c.44C>T	c.(43-45)tCc>tTc	p.S15F	KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000293308.6_5'UTR|KRT8_ENST00000546897.1_5'UTR	NM_001256282.1	NP_001243211.1	P05787	K2C8_HUMAN	keratin 8	0	Head.|Ser-rich.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACCAGGCGGAGATCCTAGA	0.607000													6	10					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	53					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33413727	33413727	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:33413727G>A	ENST00000404816.2	+	7	1863	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	LTBP1_ENST00000418533.2_Missense_Mutation_p.D178N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D178N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D178N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D178N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D178N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D504N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	504					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCAAGAATTGATGGCCCAAC	0.468000													35	62					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119810229	119810229	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:119810229G>T	ENST00000307142.4	+	1	234	c.38G>T	c.(37-39)gGa>gTa	p.G13V	SYNPO2_ENST00000448416.2_Missense_Mutation_p.G13V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G13V|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G13V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	13	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCATGACTGGAGGGGCGCCC	0.537000													10	64					5.16669e-11	5.46193e-11	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101073134	101073134	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:101073134C>G	ENST00000369162.2	-	30	5063	c.4719G>C	c.(4717-4719)ttG>ttC	p.L1573F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1573	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGATCAATTCCAAAGCAGTAA	0.388000													11	36					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125760892	125760892	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:125760892G>A	ENST00000373647.4	+	10	1355	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	407					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCCTGTTTATGACCACAGCTG	0.363000													115	35					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45387554	45387554	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:45387554C>T	ENST00000559488.1	+	15	2367	c.2351C>T	c.(2350-2352)aCg>aTg	p.T784M	ITGB3_ENST00000560629.1_Intron|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Intron	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	784					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACCAATATCACGTACCGGGGC	0.473000													23	5					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951320	73951320	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:73951320C>T	ENST00000370384.3	-	5	1146	c.646G>A	c.(646-648)Gtt>Att	p.V216I	KHDC1_ENST00000257765.5_Missense_Mutation_p.V143I|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	216						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GGCTGAGGAACGCTAAGACAC	0.512000													37	69					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5754800	5754800	+	Missense_Mutation	SNP	G	G	A	rs147871230		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:5754800G>A	ENST00000425013.2	-	11	1770	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	RNF216_ENST00000389902.3_Missense_Mutation_p.R573C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	516					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGCAGCAGCGACACTCAATC	0.522000													13	160					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40909764	40909764	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:40909764C>T	ENST00000291825.7	-	5	301	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PRX_ENST00000324001.7_Silent_p.L11L	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	11					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCCGCCTCAGCTCCTGCA	0.627000													5	5					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86613253	86613253	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:86613253C>G	ENST00000320241.3	+	1	1139	c.924C>G	c.(922-924)ttC>ttG	p.F308L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	308					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GTCCGCCTTTCAACGCTTCCC	0.667000													13	14					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490228	37490228	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:37490228G>T	ENST00000374660.1	+	37	3132	c.3033G>T	c.(3031-3033)atG>atT	p.M1011I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M892I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M892I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1035						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAAGAAATGGATAAAATAA	0.323000													13	60					4.75885e-15	5.11853e-15	1	1	0
PCLO	27445	broad.mit.edu	37	7	82585107	82585107	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:82585107T>A	ENST00000333891.9	-	5	5499	c.5162A>T	c.(5161-5163)cAt>cTt	p.H1721L	PCLO_ENST00000423517.2_Missense_Mutation_p.H1721L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGGAAGCATGCAGACTCGA	0.463000													5	70					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202700371	202700371	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:202700371G>A	ENST00000450471.2	+	8	822	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	CDK15_ENST00000434439.1_Missense_Mutation_p.A246T|CDK15_ENST00000374598.4_Missense_Mutation_p.A246T|CDK15_ENST00000260967.2_Missense_Mutation_p.A195T|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.A195T	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	246	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GACAGGTCTTGCCCGGGCCAA	0.512000													18	22					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704753	101704753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:101704753G>A	ENST00000305352.6	+	2	588	c.213G>A	c.(211-213)tgG>tgA	p.W71*	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	71					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGACCATTTGGAAAACCAAGA	0.473000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	50					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476069	65476069	+	Silent	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:65476069T>C	ENST00000519389.1	+	17	3134	c.2955T>C	c.(2953-2955)aaT>aaC	p.N985N	HEPH_ENST00000419594.1_Silent_p.N742N|HEPH_ENST00000441993.2_Silent_p.N934N|HEPH_ENST00000374727.3_Silent_p.N934N|HEPH_ENST00000336279.5_Silent_p.N664N|HEPH_ENST00000343002.2_Silent_p.N931N			Q9BQS7	HEPH_HUMAN	hephaestin	931	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTGATGAAAATAAGTCTTGGT	0.463000													38	9					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35697824	35697824	+	Silent	SNP	A	A	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr5:35697824A>C	ENST00000440995.2	+	15	2055	c.2055A>C	c.(2053-2055)tcA>tcC	p.S685S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.S690S|SPEF2_ENST00000509059.1_Silent_p.S685S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	690					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGCAAAATCAGAACAGTTGC	0.373000													18	18					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405955	55405955	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:55405955T>C	ENST00000314612.2	+	1	122	c.122T>C	c.(121-123)tTa>tCa	p.L41S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATGGGAAACTTACTCATAATG	0.383000													43	74					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087766	47087766	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:47087766A>C	ENST00000374312.1	+	3	1402	c.983A>C	c.(982-984)aAc>aCc	p.N328T	NPY4R_ENST00000395716.1_Missense_Mutation_p.N328T	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		CTCAACACCAACTTCAAGAAG	0.562000													7	38					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6189110	6189110	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:6189110C>T	ENST00000262450.3	-	23	3506	c.3407G>A	c.(3406-3408)cGc>cAc	p.R1136H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1136	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGGCCGATGCGGTGGGCGCG	0.632000													8	32					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44397565	44397565	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:44397565A>G	ENST00000371477.3	+	14	2308	c.2009A>G	c.(2008-2010)tAt>tGt	p.Y670C		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	670					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.Y670C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAAGTTTTATATCTTCCTGGG	0.448000													37	41					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95072892	95072892	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:95072892G>A	ENST00000371501.4	-	51	5896	c.5774C>T	c.(5773-5775)cCg>cTg	p.P1925L	MYOF_ENST00000371502.4_Missense_Mutation_p.P1915L|MYOF_ENST00000358334.5_Missense_Mutation_p.P1912L|MYOF_ENST00000359263.4_Missense_Mutation_p.P1925L			Q9NZM1	MYOF_HUMAN	myoferlin	1925					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGAGGTCCGGAATCATGTC	0.483000													86	74					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690436	99690436	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:99690436G>A	ENST00000524871.1	+	4	507	c.217G>A	c.(217-219)Gct>Act	p.A73T	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.A73T|CNTN5_ENST00000527185.1_Missense_Mutation_p.A73T|CNTN5_ENST00000279463.3_Missense_Mutation_p.A73T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	73					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTAGGGGCAGCTCAGAATTA	0.438000													10	20					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29469826	29469826	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:29469826G>A	ENST00000536681.3	+	9	1254	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	FAR2_ENST00000547116.1_Silent_p.R239R|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Silent_p.R336R	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GACCTTTCAGGAGGCCAAATG	0.463000													76	115					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766725	171766725	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr5:171766725C>T	ENST00000311601.5	-	13	1554	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	462					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGTGGCTTCGCTGCCCGTG	0.652000													10	25					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903530	6903530	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:6903530G>T	ENST00000486284.1	+	1	729	c.455G>T	c.(454-456)gGa>gTa	p.G152V	GRM7_ENST00000357716.4_Missense_Mutation_p.G152V|GRM7_ENST00000389336.4_Missense_Mutation_p.G152V|GRM7_ENST00000402647.2_Missense_Mutation_p.G152V|GRM7_ENST00000403881.1_Missense_Mutation_p.G152V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	152					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAAGTAGTTGGAGTGATTGGG	0.602000													33	50					1.06647e-15	1.16057e-15	1	1	0
UGT2B17	7367	broad.mit.edu	37	4	69403585	69403585	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:69403585G>C	ENST00000317746.2	-	6	1393	c.1351C>G	c.(1351-1353)Cat>Gat	p.H451D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	451					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GGTTGATCATGATGAATTCTT	0.393000													61	106					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56335035	56335035	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:56335035G>A	ENST00000331886.5	+	14	1555		c.e14-1		DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCCAATGCAGATTGACCCTG	0.493000													47	163					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951349	10951349	+	Silent	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr21:10951349A>G	ENST00000298232.7	-	9	676	c.309T>C	c.(307-309)taT>taC	p.Y103Y	TPTE_ENST00000361285.4_Silent_p.Y121Y|TPTE_ENST00000342420.5_Silent_p.Y83Y|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	121					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCAAAGGAATATAAAGTTTGC	0.323000													18	120					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128751084	128751084	+	Silent	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:128751084G>T	ENST00000377970.2	+	2	1131	c.621G>T	c.(619-621)tcG>tcT	p.S207S	MYC_ENST00000524013.1_Silent_p.S206S|MYC_ENST00000259523.6_Silent_p.S192S	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	192					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TCGACCCCTCGGTGGTCTTCC	0.667000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	26					7.87624e-14	8.37417e-14	1	1	0
ART1	417	broad.mit.edu	37	11	3685343	3685343	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:3685343C>G	ENST00000250693.1	+	5	1009	c.908C>G	c.(907-909)tCt>tGt	p.S303C		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	303					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCCCCCTCTCTGCAGTCTGG	0.562000													38	51					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22233087	22233087	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:22233087G>C	ENST00000401957.2	-	1	440	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	65					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAGAGAGCAGAGAGTCCACT	0.512000													4	5					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2601415	2601415	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr18:2601415G>A	ENST00000261597.4	+	13	1577	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	465	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AGGAACTCCTGAATGAAACTG	0.299000													15	28					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174887	105174887	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:105174887C>G	ENST00000369797.3	+	12	1591	c.1497C>G	c.(1495-1497)atC>atG	p.I499M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	499	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTACCACATCGGGGATGAGG	0.542000													7	32					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47311142	47311142	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:47311142G>C	ENST00000426342.1	-	17	2922	c.2176C>G	c.(2176-2178)Cga>Gga	p.R726G	MDGA2_ENST00000439988.3_Missense_Mutation_p.R1024G|MDGA2_ENST00000399222.3_Missense_Mutation_p.R157G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R955G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R726G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388000													6	22					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59466098	59466098	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:59466098C>G	ENST00000288235.4	-	21	2580	c.2181G>C	c.(2179-2181)ttG>ttC	p.L727F		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	727					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCTTCTTGTTCAATAAGAGGT	0.418000													55	75					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													7	20					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114993695	114993695	+	Splice_Site	SNP	T	T	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:114993695T>G	ENST00000334318.6	-	11	1300		c.e11-2		PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGTGATAAGCTGTAAAGGGTA	0.289000													25	12					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46231478	46231478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:46231478G>T	ENST00000334344.6	+	10	1490	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.E69*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E291*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	440					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCAAAAGTAGAAAAGAGCAT	0.358000			"""N, S, F"""		hepatocellular carcinoma								19	38					8.00594e-06	8.22833e-06	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:37879658G>A	ENST00000406381.2	+	19	2453	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	678					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCAAGCGACGGCAGCAGAAG	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			1777	9					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50740961	50740961	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:50740961C>T	ENST00000355832.5	-	2	128	c.50G>A	c.(49-51)tGt>tAt	p.C17Y	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.C17Y|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.C17Y|PGBD3_ENST00000603152.1_Missense_Mutation_p.C17Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	17					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTCTGTAAACAGTCTTGCTC	0.418000								Direct reversal of damage;Nucleotide excision repair (NER)					9	28					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121541	27121541	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:27121541G>A	ENST00000288699.6	+	2	332	c.174G>A	c.(172-174)gtG>gtA	p.V58V	DPYSL5_ENST00000401478.1_Silent_p.V58V	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	58					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAACTGGTGATCCCTGGTG	0.572000													11	22					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240410	132240410	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:132240410G>A	ENST00000321253.6	+	5	1449	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	448					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGAAGAAGGCGAAGAATACTG	0.552000													43	88					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34302299	34302299	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:34302299C>T	ENST00000361162.6	-	11	1288	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	RBM39_ENST00000528062.3_Missense_Mutation_p.E280K|RBM39_ENST00000253363.6_Missense_Mutation_p.E302K|RBM39_ENST00000407261.4_Missense_Mutation_p.E145K	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	302	Activating domain (By similarity).|Interaction with JUN (By similarity).|RRM 2.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTGGCACATTCTGAGTCAGAA	0.353000													3	51					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563741	140563741	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr5:140563741G>A	ENST00000361016.2	+	1	2762	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCG	0.672000													22	35					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848138	83848138	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:83848138C>T	ENST00000349129.2	+	21	4637	c.4377C>T	c.(4375-4377)ctC>ctT	p.L1459L	DOPEY1_ENST00000369739.3_Silent_p.L1450L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.L1440L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1459					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTATTTCTCTCTGCTTATATT	0.363000													43	61					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901471	102901471	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:102901471G>A	ENST00000359520.7	+	9	2543	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E773K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	773							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGTGTGACAGAGCTCGGACC	0.607000													16	32					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768152	33768152	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:33768152G>C	ENST00000285013.6	-	6	2431	c.2156C>G	c.(2155-2157)tCa>tGa	p.S719*	SLFN13_ENST00000542635.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.S401*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.S401*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	719						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATACTGTGCTGAGAGAGGGGG	0.448000													126	36					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53218948	53218948	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:53218948C>G	ENST00000394729.2	+	9	1174	c.846C>G	c.(844-846)atC>atG	p.I282M	PRKCD_ENST00000330452.3_Missense_Mutation_p.I282M	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	282					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TCTGCGGCATCAACCAGAAGC	0.607000													35	24					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47574247	47574247	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:47574247G>A	ENST00000273859.3	+	17	3509	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1080					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGGCATGCAGGTGAGTGGAT	0.498000													22	38					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72840411	72840411	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:72840411C>G	ENST00000347612.4	-	12	2688	c.2587G>C	c.(2587-2589)Ggt>Cgt	p.G863R	GRIN2C_ENST00000293190.5_Intron	NM_001278553.1	NP_001265482.1	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	0					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGGTGGGCACCCACCCTGCTG	0.602000													21	7					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776536	77776536	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:77776536T>A	ENST00000521891.2	+	11	11034	c.10586T>A	c.(10585-10587)aTc>aAc	p.I3529N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.I3484N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3503N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I3480N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3480	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCCTAATATCCTTTTCCAA	0.493000										HNSCC(33;0.089)			24	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	15					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697058	113697058	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:113697058C>T	ENST00000295878.3	-	16	2727	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	861										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTGCAATCTCATGCTTGCCC	0.413000													26	64					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196386910	196386910	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:196386910G>A	ENST00000328557.4	+	3	599	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		ACGCCCTGCCGGGCCTGCGGA	0.672000													4	12					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364165	22364165	+	Silent	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:22364165A>G	ENST00000397121.2	-	3	671	c.354T>C	c.(352-354)taT>taC	p.Y118Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGACGTTTGCATATTTGCCAC	0.333000													50	83					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131799409	131799409	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:131799409C>T	ENST00000392953.3	+	10	1878	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	ARHGEF4_ENST00000326016.5_Silent_p.A453A|ARHGEF4_ENST00000525839.1_Silent_p.A453A|ARHGEF4_ENST00000355771.3_Silent_p.A382A|ARHGEF4_ENST00000409303.1_Silent_p.A393A|ARHGEF4_ENST00000428230.2_Intron	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	453	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ATGTTGAAGCCGCCTTGCATG	0.572000													22	57					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78204153	78204153	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:78204153C>T	ENST00000281038.5	-	7	1153	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	NARS2_ENST00000528850.1_Missense_Mutation_p.E33K	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	260					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATCTCTGCTTCTATCATATAA	0.398000													30	59					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12821493	12821493	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:12821493G>A	ENST00000425528.1	-	13	1569	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	TNPO2_ENST00000592287.1_Silent_p.F404F|TNPO2_ENST00000441499.1_Silent_p.F404F|TNPO2_ENST00000356861.5_Silent_p.F404F|TNPO2_ENST00000450764.2_Silent_p.F404F|TNPO2_ENST00000588216.1_Silent_p.F404F			O14787	TNPO2_HUMAN	transportin 2	404					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCGGGGTGGAAGAGGAGGC	0.632000													10	8					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075521	76075521	+	RNA	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:76075521G>A	ENST00000395215.3	+	0	1161																											gagaggctgcgaaagcaggaa	0.607000													4	203					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28602409	28602409	+	Missense_Mutation	SNP	G	G	A	rs149148363		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr18:28602409G>A	ENST00000434452.1	-	7	989	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	DSC3_ENST00000360428.4_Missense_Mutation_p.R279C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	279	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTTCAGGCGCGTATGCATT	0.448000													5	89					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113086762	113086762	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr13:113086762G>A	ENST00000375699.3	+	5	529	c.357G>A	c.(355-357)aaG>aaA	p.K119K	SPACA7_ENST00000283550.3_Silent_p.K150K			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	150						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CCACAGAAAAGAATTCAAAGA	0.353000													24	44					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19754183	19754183	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr22:19754183C>T	ENST00000332710.4	+	9	1410	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	55					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ACCACTATCTCGGGGCCAAGA	0.736000													5	4					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872241	227872241	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:227872241C>G	ENST00000396625.3	-	48	5080	c.4873G>C	c.(4873-4875)Gat>Cat	p.D1625H	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1622H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1625	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCTCTGAAATCTTCCAGGCAG	0.532000													37	24					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87457449	87457449	+	Silent	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:87457449T>C	ENST00000268616.4	-	4	613	c.396A>G	c.(394-396)aaA>aaG	p.K132K		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	132					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGGAAGATTTGGTTACTG	0.378000													37	102					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997889	27997889	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:27997889T>A	ENST00000441525.1	-	1	1677	c.1563A>T	c.(1561-1563)ttA>ttT	p.L521F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	521										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCACATCTTTTAACCCAGTAA	0.498000													39	6					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29469786	29469786	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:29469786T>C	ENST00000536681.3	+	9	1214	c.968T>C	c.(967-969)tTg>tCg	p.L323S	FAR2_ENST00000547116.1_Missense_Mutation_p.L226S|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.L323S	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GTCCAAGTCTTGGCAACCTTT	0.413000													59	93					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007281	58007281	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:58007281A>C	ENST00000286494.4	+	4	927	c.467A>C	c.(466-468)aAg>aCg	p.K156T	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K195T|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	156					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGAAGAAGAAGGCTCTGGAA	0.507000													25	36					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108158680	108158680	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:108158680C>T	ENST00000273353.3	-	25	3095	c.3039G>A	c.(3037-3039)gaG>gaA	p.E1013E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1013						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGATGGGCCTCCTGCACAA	0.493000													21	93					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233399030	233399030	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:233399030G>A	ENST00000258385.3	+	11	1381	c.1349G>A	c.(1348-1350)aGg>aAg	p.R450K	CHRND_ENST00000457943.2_Missense_Mutation_p.R256K|CHRND_ENST00000543200.1_Missense_Mutation_p.R435K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	450					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AACCACATGAGGGACCAGAAC	0.507000													16	11					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170642	36170642	+	Silent	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGTGGGCGGGAGCATTG	0.562000													17	66					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2955357	2955357	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:2955357G>C	ENST00000416614.2	-	5	693	c.628C>G	c.(628-630)Caa>Gaa	p.Q210E	NOP14_ENST00000314262.6_Missense_Mutation_p.Q210E|NOP14_ENST00000502735.1_Missense_Mutation_p.Q210E|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.Q210E			P78316	NOP14_HUMAN	NOP14 nucleolar protein	210					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTTCTCGTTGAGCTTGTCTC	0.498000													61	107					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97784073	97784073	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:97784073C>T	ENST00000297293.5	+	5	747	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	152	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTTTAGGTTCTCTTGGGAGA	0.393000													55	73					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55648012	55648012	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:55648012C>T	ENST00000247191.2	-	5	715	c.499G>A	c.(499-501)Gat>Aat	p.D167N	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D167N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	167					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCTCGTTATCAATCTATTTA	0.328000													23	40					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49644691	49644691	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:49644691G>T	ENST00000334186.4	+	19	2732	c.2383G>T	c.(2383-2385)Gat>Tat	p.D795Y	PPFIA3_ENST00000602351.1_Missense_Mutation_p.D795Y	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	795						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AACACCCTCAGATGAGACACT	0.552000													11	34					1.58986e-06	1.64316e-06	1	1	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													4	27					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007280	58007280	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:58007280A>G	ENST00000286494.4	+	4	926	c.466A>G	c.(466-468)Aag>Gag	p.K156E	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K195E|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	156					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ACAGAAGAAGAAGGCTCTGGA	0.502000													25	36					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568220	7568220	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:7568220G>A	ENST00000340209.4	+	2	411	c.114G>A	c.(112-114)ccG>ccA	p.P38P	RBFOX1_ENST00000553186.1_Silent_p.P33P|RBFOX1_ENST00000355637.4_Silent_p.P53P|RBFOX1_ENST00000311745.5_Silent_p.P53P|RBFOX1_ENST00000436368.2_Silent_p.P53P|RBFOX1_ENST00000547372.1_Silent_p.P76P|RBFOX1_ENST00000547338.1_Silent_p.P33P|RBFOX1_ENST00000552089.1_Silent_p.P69P|RBFOX1_ENST00000422070.4_Silent_p.P76P|RBFOX1_ENST00000550418.1_Silent_p.P33P|RBFOX1_ENST00000535565.2_Silent_p.P69P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	33					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGCTCCCCCGCAGAACGGTA	0.592000													25	94					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532043	50532043	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr10:50532043G>A	ENST00000374144.3	+	3	1741	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E485K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	485										endometrium(1)	1						GGAGCCCAGTGAATGTCAGTC	0.562000													4	23					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825651	196825651	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:196825651C>T	ENST00000312428.6	-	18	2324	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	742	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTTCCTCTTCAGCATTAAAC	0.318000													20	38					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	905524	905524	+	Missense_Mutation	SNP	T	T	C	rs138465573		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:905524T>C	ENST00000314167.4	-	4	429	c.319A>G	c.(319-321)Ata>Gta	p.I107V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	107	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTTTTCCTATAGACGCTGCA	0.498000													12	78					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75681786	75681786	+	Silent	SNP	G	G	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:75681786G>T	ENST00000300086.4	+	1	103	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	2					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CAGACATGGCGGAGGCGATGG	0.627000													19	49					2.27731e-05	2.32763e-05	1	1	0
DCAF5	8816	broad.mit.edu	37	14	69583208	69583208	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:69583208G>A	ENST00000341516.5	-	5	687	c.540C>T	c.(538-540)ccC>ccT	p.P180P	DCAF5_ENST00000554215.1_Silent_p.P98P|DCAF5_ENST00000556847.1_Silent_p.P98P|DCAF5_ENST00000389997.6_Silent_p.P180P|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Silent_p.P179P	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	180						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCAGGCAGAAGGGCTCTGTGG	0.488000													37	40					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302944	58302944	+	Silent	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr15:58302944G>A	ENST00000249750.4	-	4	1163	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ALDH1A2_ENST00000347587.3_Silent_p.F132F|ALDH1A2_ENST00000558231.1_Silent_p.F103F|ALDH1A2_ENST00000537372.1_Silent_p.F111F|ALDH1A2_ENST00000559517.1_Silent_p.F36F	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	132					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAGCTTGCAGGAATGGTTTGC	0.438000													36	35					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810789	106810789	+	Silent	SNP	G	G	A	rs144052450	by1000genomes	TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:106810789G>A	ENST00000526355.2	-	4	1071	c.603C>T	c.(601-603)aaC>aaT	p.N201N	GUCY1A2_ENST00000282249.2_Silent_p.N201N|GUCY1A2_ENST00000347596.2_Silent_p.N201N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CATCAAAGCCGTTAAAAAAGT	0.403000													30	51					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970470	108970470	+	Nonsense_Mutation	SNP	C	C	A	rs140125293		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:108970470C>A	ENST00000276659.5	-	5	1074	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	RSPO2_ENST00000517781.1_Nonsense_Mutation_p.E88*|RSPO2_ENST00000378439.2_Nonsense_Mutation_p.E88*|RSPO2_ENST00000517939.1_Nonsense_Mutation_p.E85*	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	152	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GTTCCCCATTCGCTCCAATGA	0.368000													44	59					6.48837e-15	6.93843e-15	1	1	0
CAMSAP3	57662	broad.mit.edu	37	19	7677214	7677214	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:7677214G>A	ENST00000446248.2	+	13	2017	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R612K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	612					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GAGAAACGCAGAGCCATCGAG	0.692000													7	6					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211970	8211970	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr12:8211970C>T	ENST00000307637.4	-	2	1015	c.812G>A	c.(811-813)aGt>aAt	p.S271N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	271					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGAAACCCACTGGGGATTTT	0.428000													25	34					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53529869	53529869	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr14:53529869G>A	ENST00000357758.3	-	7	1741	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	DDHD1_ENST00000323669.5_Missense_Mutation_p.R520W|DDHD1_ENST00000395606.1_Missense_Mutation_p.R527W	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	520					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTGGATTCCGAGAACAGAAA	0.373000													35	65					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103605	53103605	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:53103605C>T	ENST00000408890.4	+	1	257	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	81										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATCGAGGTGCGGCCCACCCA	0.711000													8	13					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88876210	88876210	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr2:88876210C>A	ENST00000303236.3	-	12	2199	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R482L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	633	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TACCTTTTCCCGAGCCAATTC	0.393000													19	44					8.10497e-08	8.42371e-08	1	1	0
PCLO	27445	broad.mit.edu	37	7	82430882	82430882	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr7:82430882C>T	ENST00000333891.9	-	22	15296	c.14959G>A	c.(14959-14961)Gag>Aag	p.E4987K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTACAGGCTCTTGTCCATTC	0.353000													11	22					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183175	38183175	+	Missense_Mutation	SNP	C	C	G	rs138072890		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr17:38183175C>G	ENST00000394126.1	-	16	2136	c.1718G>C	c.(1717-1719)cGc>cCc	p.R573P	MED24_ENST00000501516.3_Missense_Mutation_p.R567P|MED24_ENST00000394128.2_Missense_Mutation_p.R548P|MED24_ENST00000394127.2_Missense_Mutation_p.R535P|MED24_ENST00000356271.3_Missense_Mutation_p.R535P			O75448	MED24_HUMAN	mediator complex subunit 24	548					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGAGTCGGGGCGGAAGCAGGG	0.637000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	8					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036073	9036073	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:9036073C>T	ENST00000383836.3	-	19	2789	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G764S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	788					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCATCCACGCCGTTGTGCCGG	0.572000			T	RAF1	pilocytic astrocytoma								70	61					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154302887	154302887	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:154302887C>T	ENST00000368489.3	+	3	146	c.146C>T	c.(145-147)gCg>gTg	p.A49V	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.A16V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.A35V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	35					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAAGGAGGGCGCGGGCTAAT	0.507000													18	34					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													11	367	---	---	---	---					
SENP7	57337	broad.mit.edu	37	3	101062549	101062549	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr3:101062549delT	ENST00000394095.2	-	14	2140	c.2087delA	c.(2086-2088)aagfs	p.K696fs	SENP7_ENST00000394091.1_Frame_Shift_Del_p.K532fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.K532fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.K663fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.K630fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.K631fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	696					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGATTTCAGCTTCATTTCTTC	0.348													18	76	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2698176	2698177	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr4:2698176_2698177insA	ENST00000324666.5	+	16	2841_2842	c.2490_2491insA	c.(2491-2493)aaafs	p.K831fs	FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.K853fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	831										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAGCAACCTAAAAAAATGGA	0.455													19	46	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617547	+	Frame_Shift_Del	DEL	G	G	-	rs13250763		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr8:77617547delG	ENST00000521891.2	+	2	1672	c.1224delG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.L408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.L408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.L408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTGAATCTGGGGGGGCTGT	0.537										HNSCC(33;0.089)			20	48	---	---	---	---					
OR6M1	390261	broad.mit.edu	37	11	123677024	123677024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr11:123677024delG	ENST00000309154.2	-	1	71	c.34delC	c.(34-36)ctafs	p.L12fs		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAGGCAATTAGGGTGATTTCA	0.433													21	24	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													7	73	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70066043	70066043	+	RNA	DEL	A	A	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr16:70066043delA	ENST00000531894.1	-	0	751					NR_003610.1																						AGCCAAGCCGAAAAAAAAAAA	0.289													3	4	---	---	---	---					
FTL	2512	broad.mit.edu	37	19	49469902	49469927	+	Frame_Shift_Del	DEL	TGACCACCTGACCAACCTCCACAGGC	TGACCACCTGACCAACCTCCACAGGC	-	rs11553216		TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr19:49469902_49469927delTGACCACCTGACCAACCTCCACAGGC	ENST00000331825.6	+	4	645_670	c.438_463delTGACCACCTGACCAACCTCCACAGGC	c.(436-465)ggtgaccacctgaccaacctccacaggctgfs	p.DHLTNLHRL147fs		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	147	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCC	0.549													23	134	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16492139	16492140	+	Frame_Shift_Ins	INS	-	-	TCTC			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chr20:16492139_16492140insTCTC	ENST00000354981.2	-	6	636_637	c.479_480insGAGA	c.(478-480)gatfs	p.D160fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.D160fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.D160fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	160	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCCGAAGTAGATCTCTCACACG	0.342													34	61	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44913145	44913146	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:44913145_44913146insAA	ENST00000377967.4	+	10	861_862	c.820_821insAA	c.(820-822)caafs	p.Q274fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.Q274fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	274					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCAGTATCTCCAAAAGTCCTTG	0.396			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								43	21	---	---	---	---					
ALAS2	212	broad.mit.edu	37	X	55041321	55041321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2F-A9KP-01A-11D-A38G-08	TCGA-2F-A9KP-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df8db50-dc99-4352-adcc-2312939c1867	7da205bf-a60a-4b7f-8da5-3017095ced6f	g.chrX:55041321delT	ENST00000330807.5	-	9	1433	c.1296delA	c.(1294-1296)ctafs	p.L432fs	ALAS2_ENST00000396198.3_Frame_Shift_Del_p.L419fs|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Frame_Shift_Del_p.L395fs	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	432					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCACAGATTCTAGAGCTCCAG	0.602													2	4	---	---	---	---					
