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
NDUFS7	374291	broad.mit.edu	37	19	1387822	1387822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1387822G>A	ENST00000313408.7	+	2	52	c.29G>A	c.(28-30)cGc>cAc	p.R10H	NDUFS7_ENST00000539480.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000233627.9_Missense_Mutation_p.R10H|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R10H			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	10					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CCTGGCCTGCGCGGCTTCCGG	0.711000													9	41					0	0	0.000978159	0	0
TJAP1	93643	broad.mit.edu	37	6	43472753	43472753	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:43472753G>A	ENST00000372444.2	+	11	1237	c.804G>A	c.(802-804)ccG>ccA	p.P268P	TJAP1_ENST00000259751.1_Silent_p.P268P|TJAP1_ENST00000372449.1_Silent_p.P278P|TJAP1_ENST00000372452.1_Silent_p.P268P|TJAP1_ENST00000438588.2_Silent_p.P278P|TJAP1_ENST00000436109.2_Silent_p.P268P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Silent_p.P278P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	278						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGTCCCCCGGCCCCTGGCA	0.657000													9	52					0	0	0.000274275	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888272	29888272	+	Splice_Site	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:29888272C>T	ENST00000308713.5	-	12	2437		c.e12-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCGGGACCTCTGCAGGGGAG	0.662000													3	18					0	0	6.4e-05	0	0
CHRND	1144	broad.mit.edu	37	2	233393036	233393036	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:233393036T>C	ENST00000258385.3	+	4	340	c.308T>C	c.(307-309)cTc>cCc	p.L103P	CHRND_ENST00000543200.1_Missense_Mutation_p.L88P|CHRND_ENST00000536614.1_Missense_Mutation_p.L103P|CHRND_ENST00000457943.2_Missense_Mutation_p.S13P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	103					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)		GTCCTGCGCCTCCCCCCGGAC	0.567000													3	56					0	0	6.4e-05	0	0
SMYD2	56950	broad.mit.edu	37	1	214478569	214478569	+	Silent	SNP	A	A	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:214478569A>C	ENST00000366957.5	+	2	235	c.213A>C	c.(211-213)gcA>gcC	p.A71A	SMYD2_ENST00000415093.2_Silent_p.A71A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	71					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCAAGCAGGCATTTTACTGCA	0.473000													32	109					0	0	0.000339439	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577000													3	116					0	0	6.4e-05	0	0
OR51L1	119682	broad.mit.edu	37	11	5021081	5021081	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:5021081A>G	ENST00000321543.1	+	1	869	c.869A>G	c.(868-870)aAc>aGc	p.N290S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCCTTAACCCTATTGTC	0.458000													5	43					0	0	0.000602214	0	0
A2ML1	144568	broad.mit.edu	37	12	9027036	9027036	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:9027036C>G	ENST00000299698.7	+	34	4417	c.4237C>G	c.(4237-4239)Cag>Gag	p.Q1413E	A2ML1_ENST00000539547.1_Missense_Mutation_p.Q922E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1257						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAAGAACACTCAGACTTACAC	0.433000													18	54					0	0	0.000566183	0	0
PEX5L	51555	broad.mit.edu	37	3	179525565	179525565	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:179525565C>T	ENST00000467460.1	-	14	1903	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PEX5L_ENST00000476138.1_Missense_Mutation_p.E482K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E466K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E523K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E333K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E501K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E417K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E417K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E490K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	525					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACGGCTTCCTCGCTGCGGTCT	0.537000													28	227					0	0	0.00106085	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224441	107224441	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:107224441C>G	ENST00000282251.5	-	13	1921	c.1894G>C	c.(1894-1896)Gac>Cac	p.D632H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.D632H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	632							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTGTAATAGTCTCCATCTGTT	0.388000													14	75					0	0	0.000308642	0	0
CIDECP	152302	broad.mit.edu	37	3	10059632	10059632	+	RNA	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:10059632G>A	ENST00000432401.1	-	0	505																											GATGAGGGATGAGGCCTTGCC	0.602000													10	53					0	0	0.000673444	0	0
LILRB2	10288	broad.mit.edu	37	19	54782209	54782209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:54782209G>C	ENST00000391748.1	-	7	1290	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	LILRB2_ENST00000391749.4_Nonsense_Mutation_p.S388*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.S272*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.S388*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.S388*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	388	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCGTGGGCTGAGGTCACAGG	0.592000													4	158					0	0	0.00024832	0	0
TRAF5	7188	broad.mit.edu	37	1	211545470	211545470	+	Splice_Site	SNP	C	C	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:211545470C>A	ENST00000261464.5	+	11	1154	c.1099_splice	c.e11-1	p.A367_splice	TRAF5_ENST00000427925.2_Splice_Site_p.A261_splice|TRAF5_ENST00000336184.2_Splice_Site_p.A367_splice|TRAF5_ENST00000367004.3_Splice_Site_p.A367_splice	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	367					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTGCAGCCGTTTTAGAA	0.318000													17	52					3.41278e-10	5.39883e-09	0.000566183	1	0
TENM4	26011	broad.mit.edu	37	11	78413296	78413296	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:78413296G>A	ENST00000278550.7	-	28	4824	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCAGGAAGTGGTCAATGCCAG	0.547000													9	41					0	0	0.000274275	0	0
ATP8B3	148229	broad.mit.edu	37	19	1802615	1802615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1802615G>A	ENST00000539485.1	-	11	1167	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ATP8B3_ENST00000310127.6_Missense_Mutation_p.R312W|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259W|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R259W			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGCATCCGACTGTTAGGC	0.612000													7	20					0	0	0.000157383	0	0
MTMR14	64419	broad.mit.edu	37	3	9726305	9726305	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:9726305G>C	ENST00000296003.4	+	11	1123	c.1001G>C	c.(1000-1002)tGg>tCg	p.W334S	MTMR14_ENST00000351233.5_Missense_Mutation_p.W334S|MTMR14_ENST00000420925.1_Missense_Mutation_p.W88S|MTMR14_ENST00000353332.5_Missense_Mutation_p.W334S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	334						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATCTCAGGCTGGGATCGGACC	0.577000													4	80					0	0	8.12818e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152191395	152191395	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:152191395G>C	ENST00000368801.2	-	3	2785	c.2710C>G	c.(2710-2712)Ccc>Gcc	p.P904A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	904					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATAGCTGGGAGACTGCCCT	0.647000													27	171					0	0	0.000184323	0	0
PRPH2	5961	broad.mit.edu	37	6	42689524	42689524	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:42689524G>A	ENST00000230381.5	-	1	788	c.549C>T	c.(547-549)cgC>cgT	p.R183R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGTCCAGGTAGCGATTGCTGA	0.493000													18	141					0	0	0.000132079	0	0
AWAT1	158833	broad.mit.edu	37	X	69458123	69458123	+	Silent	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:69458123C>T	ENST00000374521.3	+	5	563	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	174					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGCAACCTCGTGGGCATTG	0.572000													10	31					0	0	0.00010058	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	60					0	0	6.4e-05	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708979	96708979	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:96708979G>A	ENST00000260682.6	+	5	769	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	253					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAACACCAAGAATCAATGGA	0.333000													6	45					0	0	3.59834e-05	0	0
LRRC57	255252	broad.mit.edu	37	15	42839505	42839505	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42839505G>A	ENST00000323443.2	-	3	813	c.446C>T	c.(445-447)tCa>tTa	p.S149L	LRRC57_ENST00000397130.3_Missense_Mutation_p.S149L|LRRC57_ENST00000563454.1_Missense_Mutation_p.S149L			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	149										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTCTCCCACTGAGTCAGGTAT	0.468000													7	84					0	0	8.12818e-05	0	0
KAT8	84148	broad.mit.edu	37	16	31138398	31138398	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:31138398G>A	ENST00000543774.2	+	5	840	c.505G>A	c.(505-507)Gag>Aag	p.E169K	KAT8_ENST00000219797.4_Missense_Mutation_p.E169K|KAT8_ENST00000448516.2_Missense_Mutation_p.E169K			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	169					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CTTGGAGAAGGAGCATGAGGC	0.622000													13	47					0	0	0.00010058	0	0
GOLM1	51280	broad.mit.edu	37	9	88650358	88650358	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:88650358C>G	ENST00000388712.3	-	8	1108	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	GOLM1_ENST00000388711.3_Missense_Mutation_p.E314Q	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	314						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCCTCCATCTCTGGATTTTCC	0.642000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	131					0	0	0.000586117	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819000	159819000	+	RNA	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:159819000C>G	ENST00000497452.1	-	0	517																											AGAAGCCTCTCACAAGCTCTT	0.458000													16	131					0	0	0.000566183	0	0
MDM1	56890	broad.mit.edu	37	12	68724993	68724993	+	Silent	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:68724993A>G	ENST00000303145.7	-	2	113	c.27T>C	c.(25-27)agT>agC	p.S9S	MDM1_ENST00000393543.3_Silent_p.S9S|MDM1_ENST00000430606.2_Silent_p.S9S|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Silent_p.S9S	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	9						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCTGGTATTCACTCAGCCCCT	0.418000													9	161					0	0	0.000274275	0	0
NAV3	89795	broad.mit.edu	37	12	78400292	78400292	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:78400292C>T	ENST00000397909.2	+	8	1147	c.974C>T	c.(973-975)tCt>tTt	p.S325F	NAV3_ENST00000266692.7_Missense_Mutation_p.S325F|NAV3_ENST00000536525.2_Missense_Mutation_p.S325F|NAV3_ENST00000228327.6_Missense_Mutation_p.S325F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	325						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S325F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCATCCCTTCTCCAAGTGCC	0.547000										HNSCC(70;0.22)			14	65					0	0	0.000151284	0	0
RAVER2	55225	broad.mit.edu	37	1	65243359	65243359	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:65243359C>G	ENST00000294428.3	+	3	448	c.370C>G	c.(370-372)Cat>Gat	p.H124D	RAVER2_ENST00000371072.4_Missense_Mutation_p.H124D			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	124	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCAGATGTTTCATCAATATTC	0.348000													3	111					0	0	0.00024832	0	0
ZNF592	9640	broad.mit.edu	37	15	85341886	85341886	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:85341886C>G	ENST00000299927.3	+	5	2826	c.2804C>G	c.(2803-2805)tCa>tGa	p.S935*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S935*			Q92610	ZN592_HUMAN	zinc finger protein 592	935					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACACATCCTCAAGCCGCCCT	0.632000													9	50					0	0	0.000274275	0	0
DIP2A	23181	broad.mit.edu	37	21	47959793	47959793	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr21:47959793C>T	ENST00000318711.7	+	17	2111	c.1928C>T	c.(1927-1929)tCg>tTg	p.S643L	DIP2A_ENST00000427143.2_Missense_Mutation_p.S578L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S642L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S638L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S642L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S642L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S599L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	642					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTGCAGGGTCGATCTCCTCC	0.597000													33	72					0	0	0.000491102	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742817	10742817	+	Silent	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:10742817C>T	ENST00000586078.1	+	10	917	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	SLC44A2_ENST00000407327.4_Silent_p.L268L|SLC44A2_ENST00000335757.5_Silent_p.L270L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	270					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATGGTGATTCTGGTGCTGGG	0.562000													5	131					0	0	3.59834e-05	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111558	42111558	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42111558G>A	ENST00000457542.2	+	21	2692	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K	MAPKBP1_ENST00000260357.7_Silent_p.K641K|MAPKBP1_ENST00000456763.2_Silent_p.K808K|MAPKBP1_ENST00000221214.6_Silent_p.K685K|MAPKBP1_ENST00000514566.1_Silent_p.K802K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	808										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCTTGCCAAGAGTACCAAGA	0.542000													13	116					0	0	0.000219431	0	0
ECT2L	345930	broad.mit.edu	37	6	139167812	139167812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:139167812G>A	ENST00000423192.1	+	7	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ECT2L_ENST00000541398.1_Missense_Mutation_p.E232K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E301K			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	301					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTGCGTATGAGGTAGAGTA	0.398000			"""N, Splice, Mis"""		ETP ALL								7	273					0	0	0.000442599	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033429	26033429	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:26033429C>G	ENST00000259791.2	-	1	367	c.368G>C	c.(367-369)aGc>aCc	p.S123T		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	123					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTATGATGGCTCTCAGTTTT	0.478000													9	68					0	0	0.000442599	0	0
FCGR1A	2209	broad.mit.edu	37	1	149761632	149761632	+	Silent	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:149761632G>A	ENST00000369168.4	+	5	636	c.582G>A	c.(580-582)ctG>ctA	p.L194L	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	194	Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCAGTGCTGAATGCATCTG	0.498000													5	65					0	0	0.000442599	0	0
HRNR	388697	broad.mit.edu	37	1	152191393	152191393	+	Silent	SNP	G	G	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:152191393G>T	ENST00000368801.2	-	3	2787	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	904					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATAGCTGGGAGACTGCC	0.647000													30	175					3.99451e-17	6.40809e-16	0.000279167	1	0
BCOR	54880	broad.mit.edu	37	X	39923017	39923017	+	Missense_Mutation	SNP	G	G	A	rs147934033		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:39923017G>A	ENST00000342274.4	-	8	3951	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	BCOR_ENST00000378463.1_Missense_Mutation_p.R74W|BCOR_ENST00000378444.4_Missense_Mutation_p.R1231W|BCOR_ENST00000397354.3_Missense_Mutation_p.R1197W|BCOR_ENST00000378455.4_Missense_Mutation_p.R1179W	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1231					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTTTGCCGGCCAGGTTTG	0.547000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	83					0	0	0.00024832	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017400	203017400	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:203017400G>A	ENST00000367240.2	+	10	1713	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E103K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E396K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	93	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGCAGCTGGAGGGACAGCT	0.672000													6	36					0	0	3.59834e-05	0	0
MACF1	23499	broad.mit.edu	37	1	39903546	39903546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:39903546G>C	ENST00000564288.1	+	71	18863	c.18086G>C	c.(18085-18087)aGa>aCa	p.R6029T	MACF1_ENST00000545844.1_Missense_Mutation_p.R3970T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4472T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6066T|MACF1_ENST00000361689.2_Missense_Mutation_p.R3970T|MACF1_ENST00000372915.3_Missense_Mutation_p.R5928T|MACF1_ENST00000539005.1_Missense_Mutation_p.R3840T|MACF1_ENST00000317713.7_Missense_Mutation_p.R3970T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6041					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAGATCAGAGAGTGCATC	0.488000													3	134					0	0	6.4e-05	0	0
CCDC89	220388	broad.mit.edu	37	11	85396815	85396815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:85396815C>T	ENST00000316398.3	-	1	505	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	120						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTAGTTTCCGACTGTACTC	0.542000													6	103					0	0	8.12818e-05	0	0
NSD1	64324	broad.mit.edu	37	5	176687121	176687121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:176687121C>T	ENST00000439151.2	+	14	5143	c.5098C>T	c.(5098-5100)Cga>Tga	p.R1700*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1597*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1700					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCGGGGCTGCCGAAATCATGA	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	59					0	0	0.000602214	0	0
FBN3	84467	broad.mit.edu	37	19	8152087	8152087	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:8152087C>T	ENST00000600128.1	-	54	7042	c.6628G>A	c.(6628-6630)Gag>Aag	p.E2210K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2210K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2210K			Q75N90	FBN3_HUMAN	fibrillin 3	2210	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCTGCACACTCGTCCACATCT	0.632000													6	54					0	0	8.12818e-05	0	0
ASTN2	23245	broad.mit.edu	37	9	119382714	119382714	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:119382714C>G	ENST00000313400.4	-	18	3181	c.3081G>C	c.(3079-3081)aaG>aaC	p.K1027N	ASTN2_ENST00000288520.5_Missense_Mutation_p.K128N|ASTN2_ENST00000373996.3_Missense_Mutation_p.K1023N|ASTN2_ENST00000358637.4_Missense_Mutation_p.K79N|ASTN2_ENST00000361477.3_Missense_Mutation_p.K79N|ASTN2_ENST00000361209.2_Missense_Mutation_p.K976N|ASTN2_ENST00000341734.4_Missense_Mutation_p.K79N			O75129	ASTN2_HUMAN	astrotactin 2	1027						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCAGTGCACTCTTGAAGGCCT	0.507000													34	150					0	0	0.00058488	0	0
STAB1	23166	broad.mit.edu	37	3	52544478	52544478	+	Silent	SNP	T	T	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:52544478T>C	ENST00000321725.6	+	25	2818	c.2742T>C	c.(2740-2742)ggT>ggC	p.G914G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	914	EGF-like 8.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGAGAGGTGGCTGCCACA	0.647000													16	33					0	0	0.000175454	0	0
GPX8	493869	broad.mit.edu	37	5	54456872	54456872	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:54456872T>G	ENST00000503787.1	+	2	330	c.255T>G	c.(253-255)aaT>aaG	p.N85K	GPX8_ENST00000515370.1_Missense_Mutation_p.N34K|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000296734.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	85					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGACAGAAATTACTTAGGGC	0.463000													13	35					0	0	0.000219431	0	0
TM7SF3	51768	broad.mit.edu	37	12	27149786	27149786	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:27149786G>A	ENST00000343028.4	-	4	632	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	136						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACAGCCTCCAGGGACAGGATC	0.353000													4	22					0	0	0.00024832	0	0
NMT1	4836	broad.mit.edu	37	17	43175832	43175832	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr17:43175832G>C	ENST00000592782.1	+	8	927	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	NMT1_ENST00000258960.2_Missense_Mutation_p.E266Q			P30419	NMT1_HUMAN	N-myristoyltransferase 1	266					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCTGATCCGAGAGATCACCAG	0.522000													4	127					0	0	0.000602214	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987971	154987971	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:154987971G>A	ENST00000368426.3	+	3	972	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E279K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E313K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E279K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	279					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGAAGAAGAAGAGGAGCT	0.657000													6	29					0	0	3.59834e-05	0	0
LINGO2	158038	broad.mit.edu	37	9	27949880	27949880	+	Missense_Mutation	SNP	C	C	A	rs148104069		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:27949880C>A	ENST00000379992.2	-	6	1239	c.790G>T	c.(790-792)Gta>Tta	p.V264L	LINGO2_ENST00000308675.3_Missense_Mutation_p.V264L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	264						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGAAGGGTACAGTAGACAGA	0.463000													26	124					1.74197e-06	2.71796e-05	0.00106085	1	0
NKTR	4820	broad.mit.edu	37	3	42679772	42679772	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:42679772G>A	ENST00000232978.8	+	13	2764	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	859					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAAAAAAGAACTTTGAAA	0.373000													7	49					0	0	0.000274275	0	0
AP3B1	8546	broad.mit.edu	37	5	77590312	77590312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:77590312G>A	ENST00000255194.6	-	1	267	c.92C>T	c.(91-93)tCg>tTg	p.S31L	AP3B1_ENST00000519295.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	31					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAAGGCCCCCGAGGGGGAAAT	0.607000									Hermansky-Pudlak syndrome				12	73					0	0	0.00010058	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	46					0	0	3.59834e-05	0	0
AMBN	258	broad.mit.edu	37	4	71467197	71467197	+	Silent	SNP	A	A	G			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr4:71467197A>G	ENST00000322937.6	+	6	460	c.357A>G	c.(355-357)caA>caG	p.Q119Q	AMBN_ENST00000449493.2_Silent_p.Q104Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	119					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGCCTCAACAGCCAGGAC	0.502000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	146					0	0	0.000781405	0	0
FAM53C	51307	broad.mit.edu	37	5	137680937	137680937	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137680937G>A	ENST00000239906.5	+	4	988	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.R187K	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	187										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCTCACAGACCCTACAGC	0.642000													43	213					0	0	0.000509022	0	0
BRD8	10902	broad.mit.edu	37	5	137500599	137500599	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137500599G>A	ENST00000254900.5	-	12	1906	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	BRD8_ENST00000230901.5_Missense_Mutation_p.P585L|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.P471L|BRD8_ENST00000411594.2_Missense_Mutation_p.P515L|BRD8_ENST00000402931.1_Missense_Mutation_p.P512L	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	512					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTTCTGCAGGTTCCACCTT	0.502000													6	122					0	0	8.12818e-05	0	0
STYX	6815	broad.mit.edu	37	14	53223283	53223283	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr14:53223283A>T	ENST00000354586.4	+	5	550	c.257A>T	c.(256-258)gAt>gTt	p.D86V	STYX_ENST00000442123.2_Missense_Mutation_p.D86V|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	86					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TTAGTCCTGGATATTGCAGAT	0.249000													8	49					0	0	0.000442599	0	0
AKAP12	9590	broad.mit.edu	37	6	151670504	151670504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:151670504G>C	ENST00000402676.2	+	4	1218	c.978G>C	c.(976-978)aaG>aaC	p.K326N	AKAP12_ENST00000354675.6_Missense_Mutation_p.K228N|AKAP12_ENST00000359755.5_Missense_Mutation_p.K221N|AKAP12_ENST00000253332.1_Missense_Mutation_p.K326N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	326	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTTCAGAGAAGAAAAAGGAAC	0.507000													10	45					0	0	0.000442599	0	0
ZNF76	7629	broad.mit.edu	37	6	35262305	35262305	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:35262305G>A	ENST00000373953.3	+	13	1833	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	ZNF76_ENST00000339411.5_Missense_Mutation_p.A468T|ZNF76_ENST00000440666.2_Missense_Mutation_p.A497T	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	523					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCAACAGGTGGCACTGTTGGC	0.517000											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	56					0	0	3.59834e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	216002861	216002861	+	Splice_Site	SNP	A	A	T			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:216002861A>T	ENST00000272895.7	-	1	289		c.e1+1		ABCA12_ENST00000412081.1_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTAACTCACCGGCTGCCT	0.428000													130	144					0	0	0.000781405	0	0
SCN2A	6326	broad.mit.edu	37	2	166170610	166170610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:166170610delG	ENST00000375437.2	+	10	1665	c.1375delG	c.(1375-1377)aafs	p.E459fs	SCN2A_ENST00000375427.2_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.E459fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	459					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCAACAAGAAGAAGCTCAGGT	0.408													7	31	---	---	---	---					
RP11-555J4.4	0	broad.mit.edu	37	9	32635684	32635684	+	RNA	DEL	C	C	-			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:32635684delC	ENST00000430787.1	+	0	1602																											GGCAAAGGGGCGGGGGGAAAA	0.527													2	4	---	---	---	---					
UEVLD	55293	broad.mit.edu	37	11	18557990	18557992	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:18557990_18557992delCTT	ENST00000396197.3	-	10	1113_1115	c.1085_1087delAAG	c.(1084-1089)gta>g	p.EV362del	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_In_Frame_Del_p.EV340del|UEVLD_ENST00000535484.1_In_Frame_Del_p.EV324del|UEVLD_ENST00000543987.1_In_Frame_Del_p.EV362del|UEVLD_ENST00000320750.6_In_Frame_Del_p.EV340del|UEVLD_ENST00000541984.1_Intron	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	362					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGACTCACTACTTCTTCTTGGCC	0.374													20	76	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													7	119	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	4	---	---	---	---					
