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
STK16	8576	broad.mit.edu	37	2	220111842	220111842	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:220111842C>T	ENST00000409638.3	+	4	486	c.314C>T	c.(313-315)aCg>aTg	p.T105M	STK16_ENST00000396738.2_Missense_Mutation_p.T105M|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.T105M|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409260.1_Missense_Mutation_p.T150M	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	105	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGAGGTACGCTGTGGAAT	0.517000													23	20					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765123	66765123	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:66765123G>A	ENST00000374690.3	+	1	659	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.A45A|AR_ENST00000504326.1_Silent_p.A45A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	45	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGGCCGCGAGCGCAGCAC	0.672000									Androgen Insensitivity Syndrome				4	91					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101569222	101569222	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:101569222G>A	ENST00000284395.5	+	21	3139	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	LRRK1_ENST00000388948.3_Silent_p.L916L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	916					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCACGGCCTGAGGAACCTCT	0.547000													62	142					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88767395	88767395	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:88767395C>T	ENST00000237201.1	+	3	448	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	111						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GTGTGTTGTACGGGTAGAAGA	0.393000													18	41					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325766	158325766	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:158325766G>A	ENST00000444681.2	+	3	771	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CD1E_ENST00000368160.3_Missense_Mutation_p.V259I|CD1E_ENST00000368156.1_Missense_Mutation_p.V169I|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.V259I|CD1E_ENST00000368165.3_Missense_Mutation_p.V169I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.V259I|CD1E_ENST00000434258.1_Missense_Mutation_p.V257I|CD1E_ENST00000368166.3_Missense_Mutation_p.V70I|CD1E_ENST00000368164.3_Missense_Mutation_p.V70I|CD1E_ENST00000452291.2_Missense_Mutation_p.V70I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	259					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGAGGGGACGTCCTGCCTAA	0.612000													23	119					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56033442	56033442	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56033442T>A	ENST00000456986.1	+	21	2282	c.1682T>A	c.(1681-1683)cTc>cAc	p.L561H	NEDD4L_ENST00000256830.9_Missense_Mutation_p.L578H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L682H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L618H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L561H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L654H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L662H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L542H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L674H|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	682	WW 4.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTACGGCCTCTTTGAGTAC	0.458000													5	11					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	80					0	0	1	0	0
RBP7	116362	broad.mit.edu	37	1	10067753	10067753	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:10067753G>A	ENST00000294435.7	+	2	242	c.199G>A	c.(199-201)Gtt>Att	p.V67I		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	67						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GAAATTTAAAGTTGGAGAAGA	0.418000													4	46					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932148	41932148	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:41932148C>T	ENST00000321702.2	-	3	989	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	179					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GAAGAGCAGCCGGATCCCTGG	0.637000													40	62					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74399773	74399773	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:74399773G>C	ENST00000396049.3	-	2	314	c.121C>G	c.(121-123)Ctg>Gtg	p.L41V	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.L41V	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	41					hippo signaling cascade		metal ion binding|protein binding										GCTTGTCTCAGATTCCCACTT	0.388000													11	81					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618699	37618699	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr21:37618699G>C	ENST00000399151.3	+	19	4506	c.4421G>C	c.(4420-4422)aGa>aCa	p.R1474T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1474					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						GAGTGGCAGAGAGCCCTGAAC	0.647000													3	21					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184211	56184211	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56184211G>A	ENST00000361673.3	-	9	6082	c.5869C>T	c.(5869-5871)Cac>Tac	p.H1957Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1957	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGGCATTGTGCACCTTAAGC	0.537000													28	112					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133748276	133748276	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:133748276A>G	ENST00000318560.5	+	6	1318	c.937A>G	c.(937-939)Atc>Gtc	p.I313V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	313	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCGTTCTATATCATCACTGA	0.557000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								26	88					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637859	70637859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:70637859C>T	ENST00000322773.4	+	5	427	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	109	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTTCGAGTACGAAGAAACGC	0.433000													22	72					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110435125	110435125	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:110435125C>T	ENST00000375856.3	-	1	3790	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1092					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CAGCTTCTGGCTTCGGGGGGG	0.677000													8	12					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998717	100998717	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:100998717G>A	ENST00000325455.5	-	1	2538	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PGR_ENST00000263463.5_Missense_Mutation_p.A362V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	362	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGGCGGGTACGCGCAGTCGGG	0.692000													11	59					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543994	32543994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:32543994G>A	ENST00000360538.2	-	3	645	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.R112*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	177	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAGCGAAATCGTCGATCAGGG	0.458000													11	88					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43163883	43163883	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163883C>G	ENST00000592782.1	+	4	379	c.248C>G	c.(247-249)tCt>tGt	p.S83C	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.S83C			P30419	NMT1_HUMAN	N-myristoyltransferase 1	83					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)				CAGATGAACTCTTTGCCAGCA	0.473000													3	28					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57185284	57185284	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:57185284C>T	ENST00000395123.2	-	8	912	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203					transmembrane transport	integral to membrane		p.R203H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGAAAGTGCGTGCTACATG	0.542000													4	90					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248535	117248535	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:117248535G>C	ENST00000332958.2	+	17	2247	c.2231G>C	c.(2230-2232)tGt>tCt	p.C744S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	744					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.C744F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTGGCAGCTGTGCGGGGTCT	0.522000													18	46					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70603936	70603936	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:70603936G>A	ENST00000302516.5	+	24	3503	c.3292G>A	c.(3292-3294)Ggg>Agg	p.G1098R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1098					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTACCATGTCGGGGAGACGGT	0.552000													20	45					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	80					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383896	15383896	+	Silent	SNP	G	G	A	rs147477529		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15383896G>A	ENST00000263377.2	-	2	236	c.15C>T	c.(13-15)agC>agT	p.S5S	BRD4_ENST00000371835.4_Silent_p.S5S|BRD4_ENST00000360016.5_Silent_p.S5S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	5					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCCAGGGCCGCTCTCCGCAG	0.547000			T	C15orf55	lethal midline carcinoma of young people								4	154					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:31500330G>A	ENST00000358743.1	+	21	2919	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	RP3-412A9.10_ENST00000504335.1_RNA|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000333137.7_3'UTR	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	878	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627000													17	95					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657000													4	156					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515383	195515383	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:195515383G>T	ENST00000463781.3	-	2	3527	c.3068C>A	c.(3067-3069)aCc>aAc	p.T1023N	MUC4_ENST00000475231.1_Missense_Mutation_p.T1023N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1024	Repeat.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGAGGGGTGGTGTGACC	0.572000													3	8					1	1	1	1	0
ARMC9	80210	broad.mit.edu	37	2	232141379	232141379	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:232141379C>T	ENST00000349938.4	+	15	1559	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	455							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGATTCAAGACGGCCTCATCT	0.512000													4	208					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113099872	113099872	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:113099872G>A	ENST00000393845.2	-	16	1992	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	WDR52_ENST00000295868.2_Silent_p.G642G|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	642										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAAGAATATAGCCATTTTCAC	0.299000													8	35					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37898681	37898681	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:37898681G>A	ENST00000403299.1	-	12	1931	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	CARD10_ENST00000406271.3_Missense_Mutation_p.S286F|CARD10_ENST00000251973.5_Missense_Mutation_p.S572F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	572	Poly-Ser.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGCTGTCAGAGGATGAGGA	0.592000													4	60					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31812948	31812948	+	Silent	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:31812948C>A	ENST00000446923.2	+	8	3032	c.2641C>A	c.(2641-2643)Cgg>Agg	p.R881R	ZEB1_ENST00000320985.10_Silent_p.R897R|ZEB1_ENST00000542815.3_Silent_p.R830R|ZEB1_ENST00000560721.2_Silent_p.R877R|ZEB1_ENST00000361642.5_Silent_p.R898R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAAAATGCGGAAGACAGA	0.373000													25	36					6.32553e-13	6.56513e-13	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20027287	20027287	+	Silent	SNP	G	G	A	rs138938855	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:20027287G>A	ENST00000294543.6	-	14	1597	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.S412S|TMCO4_ENST00000375127.1_Silent_p.S452S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	452						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGATCCTCCCGGACACCACCT	0.567000													4	131					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678549	64678549	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:64678549C>T	ENST00000421419.2	-	10	1541	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ATG2A_ENST00000377264.3_Missense_Mutation_p.R476Q			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	476							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAAGCGTGGTCGAAGGTGATG	0.602000													15	76					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	27					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458428	112458428	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112458428G>C	ENST00000302475.4	-	4	973	c.410C>G	c.(409-411)tCt>tGt	p.S137C	MCC_ENST00000408903.3_Missense_Mutation_p.S327C|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S74C	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	137					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATAGAGACAGAGGTCTGGTC	0.522000													8	56					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118307581	118307581	+	Silent	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:118307581C>G	ENST00000534358.1	+	1	377	c.354C>G	c.(352-354)gtC>gtG	p.V118V	KMT2A_ENST00000389506.5_Silent_p.V118V|KMT2A_ENST00000354520.4_Silent_p.V118V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CGCTGCAGGTCTCGGCCGCCA	0.726000													5	23					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8233963	8233963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:8233963C>T	ENST00000520004.1	-	3	2220	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.W652*			Q86YV5	SG223_HUMAN		652							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTCTCTTCCCCAGCTGTGAC	0.592000													25	71					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775054	38775054	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:38775054C>G	ENST00000308973.4	-	4	2763	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	TLR10_ENST00000506111.1_Missense_Mutation_p.E720Q|TLR10_ENST00000508334.1_Missense_Mutation_p.E720Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E720Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	720	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCAGAATTTTCATGGAAGAGA	0.378000													20	134					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45822923	45822923	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45822923C>T	ENST00000221476.3	-	2	223	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	17	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACTCCTCCTCAGGCTTGTAA	0.527000													24	115					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:129116292A>C	ENST00000514355.1	-	0	412																				lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512000													13	82					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33444658	33444658	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:33444658G>A	ENST00000336431.5	-	8	1097	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	351					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGTAATTGCTGAAGTCCTCTT	0.587000													8	46					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57755599	57755599	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:57755599G>A	ENST00000274289.3	-	1	488	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	63	Poly-His.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCCCGAGTGCGAATGGTGGTG	0.677000													5	35					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658622	24658622	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:24658622C>G	ENST00000556387.1	-	10	2480	c.2447G>C	c.(2446-2448)tGa>tCa	p.*816S	RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.144_144insQ|TM9SF1_ENST00000528669.1_Nonstop_Mutation_p.*590S|TM9SF1_ENST00000524835.1_Nonstop_Mutation_p.*520S|TM9SF1_ENST00000530611.1_Nonstop_Mutation_p.*816S|TM9SF1_ENST00000261789.4_Nonstop_Mutation_p.*607S			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATACAGAACTCAGTCCATCTT	0.433000													11	114					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969906	101969906	+	Silent	SNP	A	A	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:101969906A>C	ENST00000543253.1	+	5	1028	c.109A>C	c.(109-111)Aga>Cga	p.R37R	GPRASP2_ENST00000332262.5_Silent_p.R37R|GPRASP2_ENST00000535209.1_Silent_p.R37R	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTGGTGGTCAGACCCAAGGT	0.572000													33	215					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128986828	128986828	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:128986828C>T	ENST00000314797.6	+	16	1697	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	531					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCACCTTCTACCTAAATGTCC	0.532000													30	37					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682326	44682326	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:44682326C>T	ENST00000454036.1	+	20	2802	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A886V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A886E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCATCACTGCGGAGGTCGAG	0.537000													124	131					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731914	92731914	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:92731914G>A	ENST00000379958.2	-	3	3766	c.3497C>T	c.(3496-3498)tCt>tTt	p.S1166F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1166						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCTGTTGAGATTCTTTGAA	0.388000													24	128					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54871676	54871676	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:54871676A>C	ENST00000371320.3	-	1	416	c.6T>G	c.(4-6)ttT>ttG	p.F2L	SSBP3_ENST00000371319.3_Missense_Mutation_p.F2L|SSBP3_ENST00000357475.4_Missense_Mutation_p.F2L	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGCCTTTGGCAAACATGGTTT	0.736000													4	4					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360180	72360180	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:72360180C>T	ENST00000001146.2	-	5	1321	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R182H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R298H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	373					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCACAGTGCGGTAGCCGCC	0.682000													12	61					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355182	70355182	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:70355182G>A	ENST00000305107.6	-	3	1023	c.977C>T	c.(976-978)tCa>tTa	p.S326L	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S326L|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S190L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	326					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGCAAGGGCTGATGCAATTAC	0.403000													21	164					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100176836	100176836	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:100176836G>T	ENST00000317233.4	-	20	3417	c.3182C>A	c.(3181-3183)gCt>gAt	p.A1061D	AFF3_ENST00000409579.1_Missense_Mutation_p.A1086D|AFF3_ENST00000356421.2_Missense_Mutation_p.A1086D|AFF3_ENST00000409236.1_Missense_Mutation_p.A1061D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1061					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCATAATGCAGCCAGTTGTTT	0.483000													21	72					5.35047e-06	5.47026e-06	1	1	0
B3GAT3	26229	broad.mit.edu	37	11	62384033	62384033	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:62384033A>T	ENST00000531383.1	-	4	1060	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	B3GAT3_ENST00000265471.5_Missense_Mutation_p.L285Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L285Q			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	285					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AAGGTGGCTCAGAAGACTGCT	0.582000													24	91					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368846	26368846	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26368846G>C	ENST00000356386.2	+	4	327	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A2_ENST00000508906.2_Missense_Mutation_p.D5H|BTN3A2_ENST00000377708.2_Missense_Mutation_p.D47H|BTN3A2_ENST00000396948.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.D24H|BTN3A2_ENST00000527422.1_Missense_Mutation_p.D47H	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	47	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGTGGGTGAAGACGCTGATCT	0.572000													6	141					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79791963	79791963	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:79791963G>A	ENST00000335016.5	+	11	1424	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	BMP2K_ENST00000502871.1_Missense_Mutation_p.E420K	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	420						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAATGGCCCTGAAATTTTATT	0.438000													10	69					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5022188	5022188	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:5022188C>G	ENST00000381652.3	+	3	695	c.201C>G	c.(199-201)atC>atG	p.I67M	JAK2_ENST00000539801.1_Missense_Mutation_p.I67M	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	67	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CAGAAGAAATCTGTATTGCTG	0.358000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				14	64					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	38					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18669051	18669051	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:18669051G>A	ENST00000406451.3	+	7	884	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	HDAC9_ENST00000432645.2_Missense_Mutation_p.R245Q|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Missense_Mutation_p.R248Q|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000405010.3_Missense_Mutation_p.R245Q|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.R217Q|HDAC9_ENST00000524023.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	245	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTCAGGCGGAAGGATGGA	0.478000													15	32					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303916	44303916	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:44303916G>A	ENST00000262915.3	+	6	619	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ST3GAL3_ENST00000372366.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A148T|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.A94T|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A79T|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A117T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.A94T|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A117T|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A94T|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.A63T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	79					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACCAAGTACGCAAACTTTTC	0.512000													7	343					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350983	50350983	+	Silent	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:50350983C>A	ENST00000376020.2	-	6	3184	c.3159G>T	c.(3157-3159)ctG>ctT	p.L1053L	SHROOM4_ENST00000289292.7_Silent_p.L1053L|SHROOM4_ENST00000460112.3_Silent_p.L937L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1053					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACGGCTGCGCAGTGGGTGGG	0.552000													30	49					2.12542e-12	2.18934e-12	1	1	0
MIEF2	125170	broad.mit.edu	37	17	18166073	18166073	+	Silent	SNP	C	C	T	rs138649022		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:18166073C>T	ENST00000323019.4	+	2	250	c.39C>T	c.(37-39)agC>agT	p.S13S	SMCR7_ENST00000395704.4_Silent_p.S13S|SMCR7_ENST00000395706.2_Silent_p.S24S|SMCR7_ENST00000578621.1_Silent_p.S13S|SMCR7_ENST00000578174.1_Silent_p.S13S|SMCR7_ENST00000395703.4_Silent_p.S13S|SMCR7_ENST00000577216.1_Intron	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		13						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					AGCGGCGTAGCGACGAAGGGC	0.677000													16	48					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18035781	18035781	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:18035781G>A	ENST00000205890.5	+	11	4559	c.4221G>A	c.(4219-4221)agG>agA	p.R1407R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1407	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAAACGAGAGGAATTACCACA	0.572000													32	59					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121429589	121429589	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:121429589C>T	ENST00000369085.3	+	2	713	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	136	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGGTCCCAGTCACCTCTGCGG	0.652000													18	152					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902151	129902151	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:129902151C>G	ENST00000368654.3	-	13	8328	c.7953G>C	c.(7951-7953)aaG>aaC	p.K2651N	MKI67_ENST00000368653.3_Missense_Mutation_p.K2291N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2651	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGGTTTCTTCTTTGCACGTT	0.527000													22	151					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48792042	48792042	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:48792042C>T	ENST00000156084.4	-	4	912	c.852G>A	c.(850-852)gaG>gaA	p.E284E	OTUD5_ENST00000428668.2_Silent_p.E67E|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Silent_p.E284E|OTUD5_ENST00000396743.3_Silent_p.E284E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	284	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGGCCTGCATCTCAATGTGGT	0.488000													81	178					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494409	55494409	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55494409G>A	ENST00000543010.1	+	6	1486	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	NLRP2_ENST00000391721.4_Missense_Mutation_p.R424Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R424Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R448Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R426Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.R445Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R426Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R425Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	448	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCGCGCTGCGGACGCTGAGC	0.721000													8	49					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	74					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638522	12638522	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:12638522G>C	ENST00000339282.7	-	4	596	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCATATTCCTGATAGTCATAT	0.408000													11	63					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183077530	183077530	+	Silent	SNP	T	T	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:183077530T>G	ENST00000258341.4	+	3	1100	c.843T>G	c.(841-843)gcT>gcG	p.A281A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	281	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATTTTGCTGTAGGTGGCA	0.363000													8	32					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202549820	202549820	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:202549820T>C	ENST00000409474.3	-	7	748	c.541A>G	c.(541-543)Agg>Ggg	p.R181G	MPP4_ENST00000396886.3_Missense_Mutation_p.R137G|MPP4_ENST00000428900.2_Missense_Mutation_p.R181G|MPP4_ENST00000409143.1_Missense_Mutation_p.R154G|MPP4_ENST00000359962.5_Missense_Mutation_p.R181G|MPP4_ENST00000447335.2_Missense_Mutation_p.R181G|MPP4_ENST00000315506.7_Missense_Mutation_p.R181G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	181	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TGGATGATCCTGGCCACCAAG	0.522000													15	10					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237035	43237035	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:43237035G>C	ENST00000327495.5	-	3	794	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG3_ENST00000595140.1_Missense_Mutation_p.L204V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	204	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACACCAAATAGAAAGAGGGTC	0.517000													154	315					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567000									Ichthyosis				8	1042					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472414	2472414	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:2472414C>T	ENST00000258711.6	+	2	275	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	47					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACACGGGGCCGCCGCTGCCC	0.642000													66	122					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123538450	123538450	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:123538450T>A	ENST00000373926.3	-	5	927	c.740A>T	c.(739-741)gAc>gTc	p.D247V	FBXW2_ENST00000340778.5_Missense_Mutation_p.D182V|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	247					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CACAGTGAAGTCTGCAGAGCC	0.458000													39	75					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27759290	27759290	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:27759290G>A	ENST00000449599.1	-	6	1406	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	EOMES_ENST00000295743.4_Intron|EOMES_ENST00000537516.1_Silent_p.T168T	NM_001278182.1|NM_005442.2	NP_001265111.1|NP_005433.2	O95936	EOMES_HUMAN	eomesodermin	460					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTCTGAAGCGGTGTACATGC	0.433000													11	16					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43163902	43163902	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163902C>G	ENST00000592782.1	+	4	398	c.267C>G	c.(265-267)atC>atG	p.I89M	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.I89M			P30419	NMT1_HUMAN	N-myristoyltransferase 1	89					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)				CAGAGAGGATCCAGGAAATAC	0.463000													5	28					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930834	31930834	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:31930834G>A	ENST00000375394.2	+	13	1482	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SKIV2L_ENST00000544581.1_Missense_Mutation_p.V264I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	457	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGTGCCACCGTCCCCAACGC	0.592000													4	105					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395941	40395941	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:40395941G>A	ENST00000221347.6	-	15	7463	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2486	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCAGGCCGGGTGCCGCAG	0.632000													5	251					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			30	65					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15538235	15538235	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15538235G>A	ENST00000389282.4	-	6	3423	c.3210C>T	c.(3208-3210)ggC>ggT	p.G1070G	WIZ_ENST00000545156.1_Silent_p.G384G|WIZ_ENST00000599686.2_Silent_p.G254G|WIZ_ENST00000599910.1_Silent_p.G387G|WIZ_ENST00000263381.6_Silent_p.G213G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1070						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCCATTTGCC	0.637000													13	45					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112363035	112363035	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112363035C>T	ENST00000302475.4	-	17	3017	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E	MCC_ENST00000408903.3_Silent_p.E1008E|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.E755E	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTA	0.512000													6	64					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225550	26225550	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26225550G>C	ENST00000360408.1	+	1	168	c.168G>C	c.(166-168)caG>caC	p.Q56H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GTCGCTACCAGAAGTCTACCG	0.632000													24	87					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600766	31600766	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:31600766G>C	ENST00000376033.2	+	16	4550	c.4316G>C	c.(4315-4317)cGa>cCa	p.R1439P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1439P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1439	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAAGAACCGAAGGTGGGTA	0.562000													4	19					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150789	51150789	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:51150789G>A	ENST00000342995.2	+	1	1023	c.921G>A	c.(919-921)gcG>gcA	p.A307A						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCGATTCTGCGCCAGGCTCTG	0.736000													15	17					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28861634	28861634	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:28861634G>A	ENST00000373833.6	+	8	799	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Missense_Mutation_p.V203M|RCC1_ENST00000373832.1_Missense_Mutation_p.V172M|RCC1_ENST00000398958.2_Missense_Mutation_p.V172M			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	172					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTGGATGTGCCTGTGGT	0.577000													38	93					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857973	124857973	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:124857973C>T	ENST00000529051.1	+	8	2110	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	CCDC15_ENST00000344762.5_Silent_p.S617S			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	617						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ATGTTCTCTCCAACGACCAGA	0.388000													15	105					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170802	41170802	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:41170802C>T	ENST00000355653.3	-	2	497	c.402G>A	c.(400-402)gtG>gtA	p.V134V	VAT1_ENST00000587173.1_Silent_p.V66V|VAT1_ENST00000420567.3_5'UTR	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	134						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCAACACCATCACCCGGTCTC	0.522000													9	72					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112648043	112648043	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:112648043C>T	ENST00000550722.1	-	50	7600	c.7205G>A	c.(7204-7206)cGa>cAa	p.R2402Q	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2126Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2376Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AAAGTTAGCTCGGGTTTTGGT	0.517000													30	106					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068099	27068099	+	Missense_Mutation	SNP	C	C	T	rs149987249		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:27068099C>T	ENST00000268766.6	+	13	1770	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	579						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCATAGCCTCGGGTGATTGC	0.597000													4	138					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031091	33031091	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:33031091G>A	ENST00000340811.4	-	3	831	c.723C>T	c.(721-723)ctC>ctT	p.L241L	PKP2_ENST00000070846.6_Silent_p.L241L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	241					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGGGTACGTGAGCAGGGCCG	0.617000													11	59					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537000													4	107					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141754816	141754816	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:141754816C>T	ENST00000520151.1	-	4	413	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PTK2_ENST00000395218.2_Silent_p.L523L|PTK2_ENST00000535192.1_Silent_p.L523L|PTK2_ENST00000340930.3_Silent_p.L523L|PTK2_ENST00000522684.1_Silent_p.L523L|PTK2_ENST00000538769.1_Silent_p.L191L|PTK2_ENST00000519465.1_Silent_p.L151L|PTK2_ENST00000521059.1_Silent_p.L523L|PTK2_ENST00000517887.1_Silent_p.L567L|PTK2_ENST00000519419.1_Silent_p.L567L			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATACAGGATCAAAGATGCTA	0.353000													4	53					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268930	55268930	+	Missense_Mutation	SNP	G	G	A	rs149248025		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:55268930G>A	ENST00000275493.2	+	25	3173	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	EGFR_ENST00000454757.2_Missense_Mutation_p.R946H|EGFR_ENST00000455089.1_Missense_Mutation_p.R954H|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	999					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACTTCTACCGTGCCCTGATG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	195					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140583	123140583	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:123140583C>A	ENST00000264501.4	+	21	2709	c.2336C>A	c.(2335-2337)tCt>tAt	p.S779Y	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779Y			Q2LD37	K1109_HUMAN	KIAA1109	779	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S779C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCAGCTCTGGGTGGACT	0.393000													41	127					3.38236e-24	3.56448e-24	1	1	0
ZFP36L1	677	broad.mit.edu	37	14	69256258	69256258	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:69256258C>T	ENST00000439696.2	-	2	1310	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D337N	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	337					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTTAGTCATCTGAGATGGAA	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	162					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88315721	88315721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:88315721C>T	ENST00000392844.3	+	5	457	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ORC3_ENST00000257789.4_Nonsense_Mutation_p.Q137*|ORC3_ENST00000417380.2_Nonsense_Mutation_p.Q84*|ORC3_ENST00000546266.1_5'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	137				Q -> R (in Ref. 4; CAB45715).	cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGTCTCATTGCAAGCTAAAGA	0.358000													27	61					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753433	104753433	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:104753433C>T	ENST00000334877.4	+	26	5638	c.5104C>T	c.(5104-5106)Cat>Tat	p.H1702Y	KMT2E_ENST00000257745.4_Missense_Mutation_p.H1744Y|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1744Y|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		CCACCCACCTCATCAAGGACC	0.547000													17	94					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587000													4	83					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165205	26165205	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:26165205G>A	ENST00000335473.7	+	4	1572	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MYO18B_ENST00000407587.2_Missense_Mutation_p.R441H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R441H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	441						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGAAGCCGTGGGCAGGAA	0.632000													9	20					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211793	88211793	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:88211793G>A	ENST00000298767.5	-	15	3517	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1015	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTCCACTACAGATGGAAGAAT	0.428000													8	71					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112463442	112463442	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:112463442C>G	ENST00000230538.7	-	20	2943	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	LAMA4_ENST00000424408.2_Missense_Mutation_p.R842T|LAMA4_ENST00000389463.4_Missense_Mutation_p.R842T|LAMA4_ENST00000522006.1_Missense_Mutation_p.R842T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	849	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATACTGGTTCTCGAGTGCAC	0.493000													11	146					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56481654	56481654	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:56481654A>G	ENST00000370765.6	-	24	6718	c.6611T>C	c.(6610-6612)tTc>tCc	p.F2204S	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1562					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTAATTCTGAATTCGGGGTC	0.398000													27	67					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227195	56227195	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:56227195G>A	ENST00000341744.3	-	4	1097	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PMEPA1_ENST00000395816.3_Missense_Mutation_p.R210W|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R210W|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R210W|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R225W	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	260					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGGTGGAGCCGGGTCCCCTCC	0.662000													3	13					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087931	49087931	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:49087931C>G	ENST00000261900.3	-	9	1288	c.1066G>C	c.(1066-1068)Gca>Cca	p.A356P		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	356					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCTGTAAGTGCTAAATTCTCA	0.453000													36	104					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457735	5457735	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:5457735G>A	ENST00000296564.7	+	12	1204	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	328										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTTTTGATGAAGATCTTCA	0.438000													29	139					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	40					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:178482598G>A	ENST00000355689.4	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507000													5	149					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17543104	17543104	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:17543104G>C	ENST00000229922.2	+	10	1571	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	CAP2_ENST00000489374.1_Missense_Mutation_p.E235Q|CAP2_ENST00000493172.1_Missense_Mutation_p.E87Q|CAP2_ENST00000465994.1_Missense_Mutation_p.E283Q|CAP2_ENST00000378990.2_Missense_Mutation_p.E321Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	347	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGTGATTTCAGAGACTGAGCT	0.348000													23	120					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40818228	40818228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:40818228G>A	ENST00000295974.8	-	18	2787	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*	APBB2_ENST00000504305.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R698*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R721*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R699*|APBB2_ENST00000502841.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000543538.1_Nonsense_Mutation_p.R172*|RP11-632F7.3_ENST00000513127.1_RNA	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	720	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGGTGGTCGAACTTTCTGA	0.423000													22	114					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85946766	85946766	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:85946766C>G	ENST00000268638.5	+	5	899	c.477C>G	c.(475-477)atC>atG	p.I159M		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	159					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGGGATGATCAAAAGGAGCC	0.612000													18	201					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511051	104511051	+	Silent	SNP	G	G	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:104511051G>T	ENST00000304883.2	-	5	1326	c.1186C>A	c.(1186-1188)Cgg>Agg	p.R396R	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	396						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTGCTTTGCCGGTTTGGATGA	0.498000													7	181					0.00198382	0.00199841	1	1	0
AIM1	202	broad.mit.edu	37	6	106969030	106969030	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:106969030C>T	ENST00000369066.3	+	2	3210	c.2723C>T	c.(2722-2724)tCg>tTg	p.S908L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	908							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATTTCAACTCGTCAAGTACA	0.458000													31	145					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52841918	52841918	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:52841918C>T	ENST00000449956.2	+	20	2423	c.2417C>T	c.(2416-2418)aCg>aTg	p.T806M	ITIH3_ENST00000416872.2_Missense_Mutation_p.T614M	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	806					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCAGCACAGACGCATGGGCTG	0.557000													4	14					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183963099	183963099	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:183963099G>A	ENST00000455059.1	-	4	826	c.372C>T	c.(370-372)gtC>gtT	p.V124V	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.V108V|ALG3_ENST00000397676.3_Silent_p.V164V|ALG3_ENST00000445626.2_Silent_p.V116V			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	164					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGGAGTGGACACGGTAAG	0.552000													6	46					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873401	21873401	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:21873401G>A	ENST00000399982.2	-	15	3338	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	CHD8_ENST00000557364.1_Missense_Mutation_p.R1092C|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R813C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1092					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCACTTGCGCAACTCCATC	0.433000													13	19					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867709	45867709	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45867709C>T	ENST00000391945.4	-	8	768	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	ERCC2_ENST00000391944.3_Missense_Mutation_p.V153M|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.V207M|ERCC2_ENST00000391940.4_Missense_Mutation_p.V207M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	231	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGAAGACCACGACGGCCTTG	0.632000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			23	73					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896526	153896526	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:153896526C>G	ENST00000511601.1	+	12	2271	c.2083C>G	c.(2083-2085)Cag>Gag	p.Q695E	FHDC1_ENST00000260008.3_Missense_Mutation_p.Q695E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	695					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGACCTCCCAGCTGACTCT	0.617000													9	45					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26406190	26406190	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26406190G>C	ENST00000289361.6	+	3	507	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A1_ENST00000476549.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.D47H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	47	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGGGTGAAGACGCTGATCT	0.577000													11	120					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075066	86075066	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:86075066G>A	ENST00000377332.3	-	4	688	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R171C|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R166C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	194					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCACACAGCGCCGACAGGTC	0.498000													4	187					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140352951	140352951	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:140352951C>T	ENST00000371475.3	-	2	353	c.122G>A	c.(121-123)cGc>cAc	p.R41H	NSMF_ENST00000392812.4_Missense_Mutation_p.R41H|NSMF_ENST00000437259.1_Missense_Mutation_p.R41H|NSMF_ENST00000371474.3_Missense_Mutation_p.R41H|NSMF_ENST00000265663.7_Missense_Mutation_p.R41H|NSMF_ENST00000371472.2_Missense_Mutation_p.R41H|NSMF_ENST00000371473.3_Missense_Mutation_p.R41H	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		TGCGCCGTTGCGGTTCTCAGG	0.697000													12	9					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265004	1265004	+	Silent	SNP	C	C	T	rs57204601		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:1265004C>T	ENST00000348261.5	+	28	5210	c.4962C>T	c.(4960-4962)taC>taT	p.Y1654Y	CACNA1H_ENST00000565831.1_Silent_p.Y1648Y|CACNA1H_ENST00000358590.4_Silent_p.Y1648Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1654					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACTGCAACTACGTCTTCACCA	0.622000													10	18					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39430380	39430380	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:39430380T>A	ENST00000280481.7	+	12	7259	c.7043T>A	c.(7042-7044)aTa>aAa	p.I2348K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2348					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAAATATGATAGCAGAGATG	0.408000													6	73					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75278337	75278337	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:75278337G>A	ENST00000325680.7	+	10	5367	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.R1042Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1553Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGTCATATCGAGACAAAAAA	0.433000													10	44					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378164	55378164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55378164C>A	ENST00000326321.3	+	9	1379	c.1346C>A	c.(1345-1347)tCa>tAa	p.S449*	KIR3DL1_ENST00000402254.2_Nonsense_Mutation_p.S449*|KIR3DL2_ENST00000270442.5_Nonsense_Mutation_p.S432*	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	449					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCACAGTCAGGTCTTGAG	0.537000													52	203					3.4597e-24	3.61816e-24	1	1	0
CSTA	1475	broad.mit.edu	37	3	122060400	122060409	+	Frame_Shift_Del	DEL	CTGACGGGCT	CTGACGGGCT	-	rs34173813	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:122060400_122060409delCTGACGGGCT	ENST00000264474.3	+	3	332_341	c.283_292delCTGACGGGCT	c.(283-294)ttfs	p.LTGF95fs		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	95					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.G97G(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GGATGACGAGCTGACGGGCTTTTAGCAGCA	0.386													29	103	---	---	---	---					
LRCH3	84859	broad.mit.edu	37	3	197598208	197598209	+	Frame_Shift_Ins	INS	-	-	G	rs150594593		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:197598208_197598209insG	ENST00000438796.2	+	19	2049_2050	c.2005_2006insG	c.(2005-2007)gttfs	p.V669fs	LRCH3_ENST00000441090.2_Frame_Shift_Ins_p.V515fs|LRCH3_ENST00000425562.2_Frame_Shift_Ins_p.V669fs|LRCH3_ENST00000414675.2_Frame_Shift_Ins_p.V617fs|LRCH3_ENST00000334859.4_Frame_Shift_Ins_p.V669fs|LRCH3_ENST00000536618.1_Frame_Shift_Ins_p.V264fs			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	669	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TATTGAGTACCGGTTGAAAGTG	0.386													111	137	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													3	5	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40937256	40937257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:40937256_40937257insA	ENST00000346991.5	+	16	6328_6329	c.5938_5939insA	c.(5938-5940)aaafs	p.K1980fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.K1954fs|CTD-2339L15.3_ENST00000559841.1_RNA			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1980	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACCTGTGGGAAAAAATGAGA	0.347													39	131	---	---	---	---					
GPR97	222487	broad.mit.edu	37	16	57714215	57714228	+	Frame_Shift_Del	DEL	GAGGTCAGACCTGA	GAGGTCAGACCTGA	-			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:57714215_57714228delGAGGTCAGACCTGA	ENST00000333493.4	+	7	867_880	c.706_719delGAGGTCAGACCTGA	c.(706-720)gfs	p.EVRPE236fs	GPR97_ENST00000450388.3_Frame_Shift_Del_p.EVRPE116fs|GPR97_ENST00000327655.6_Frame_Shift_Del_p.EVRPE26fs	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	236	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTCCACGGAGGTCAGACCTGAGGGGACCGTG	0.631													9	58	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													8	76	---	---	---	---