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
FDFT1	2222	broad.mit.edu	37	8	11679320	11679320	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:11679320G>A	ENST00000220584.4	+	4	665	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FDFT1_ENST00000525777.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000538689.1_Missense_Mutation_p.R37Q|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528812.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R141Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R84Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	148					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GACATTTGCCGGAGAATGGGC	0.423000													4	200					0	0	0.009096	0	0
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637000													38	36					0	0	0.023175	0	0
FAM84A	151354	broad.mit.edu	37	2	14774194	14774194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:14774194G>A	ENST00000295092.2	+	2	379	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	FAM84A_ENST00000331243.4_Missense_Mutation_p.V31I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAACTGCGGGTCGGGGTTGC	0.617000													3	56					0	0	0.004672	0	0
PRL	5617	broad.mit.edu	37	6	22294711	22294711	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:22294711C>T	ENST00000306482.1	-	2	649	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	44					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AAACAGGTCTCGAAGGGTCAC	0.602000													12	33					0	0	0.010729	0	0
MED13L	23389	broad.mit.edu	37	12	116457051	116457051	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:116457051G>A	ENST00000281928.3	-	7	1193	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	329					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTCTGGAGAGGTGGGAGGGG	0.542000													16	84					0	0	0.024245	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18473914	18473914	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:18473914C>G	ENST00000433979.1	+	7	1272	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q386E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	386					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCACAGTCAGTTTTATCT	0.333000													6	34					0	0	0.003080	0	0
TM9SF3	56889	broad.mit.edu	37	10	98312702	98312702	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:98312702C>T	ENST00000371142.4	-	6	991	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	259						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCCATTTCTTCCTCTTTACTG	0.313000													16	45					0	0	0.004990	0	0
GCK	2645	broad.mit.edu	37	7	44185251	44185251	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44185251G>A	ENST00000403799.3	-	9	1567	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	GCK_ENST00000437084.1_Silent_p.I349I|GCK_ENST00000345378.2_Silent_p.I367I|GCK_ENST00000395796.3_Silent_p.I365I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	366					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGCGGCGCACGATGTCGCAGT	0.706000													7	23					0	0	0.003080	0	0
BCMO1	53630	broad.mit.edu	37	16	81295760	81295760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:81295760C>G	ENST00000258168.2	+	4	804	c.343C>G	c.(343-345)Cac>Gac	p.H115D	BCMO1_ENST00000425577.2_Missense_Mutation_p.H46D|BCMO1_ENST00000564552.1_Missense_Mutation_p.H115D	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	115					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTACTTGTCTCACACCATCCC	0.468000													67	176					0	0	0.014410	0	0
CLSPN	63967	broad.mit.edu	37	1	36228069	36228069	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:36228069G>A	ENST00000251195.5	-	5	854	c.758C>T	c.(757-759)tCt>tTt	p.S253F	CLSPN_ENST00000520551.1_Missense_Mutation_p.S253F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S253F|CLSPN_ENST00000318121.3_Missense_Mutation_p.S253F			Q9HAW4	CLSPN_HUMAN	claspin	253					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTCTCCAAAGATGGTTCTTT	0.398000													58	59					0	0	0.014410	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													3	147					0	0	0.004672	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509076	102509076	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:102509076G>A	ENST00000360184.4	+	69	12668	c.12504G>A	c.(12502-12504)cgG>cgA	p.R4168R	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTCTCACGGATATGCAAGG	0.577000													47	45					0	0	0.014410	0	0
BRD8	10902	broad.mit.edu	37	5	137486496	137486496	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137486496C>G	ENST00000254900.5	-	22	3429	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1020					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGCCACCTCTGGCTTTCCA	0.463000													49	154					0	0	0.014410	0	0
BPIFA3	128861	broad.mit.edu	37	20	31812910	31812910	+	Silent	SNP	C	C	T	rs140343618	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:31812910C>T	ENST00000375454.3	+	4	603	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.F95F	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	131						extracellular region	lipid binding										GCAGGTCCTTCGATAACAACA	0.507000													28	92					0	0	0.006320	0	0
CACNG2	10369	broad.mit.edu	37	22	36960638	36960638	+	Silent	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:36960638C>A	ENST00000300105.6	-	4	1713	c.732G>T	c.(730-732)acG>acT	p.T244T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	244					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGAGGGCTCCGTGGAGCGCG	0.697000													35	101					9.84934e-19	1.08733e-18	0.010771	1	0
PCBP3	54039	broad.mit.edu	37	21	47350746	47350746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47350746G>C	ENST00000400314.1	+	13	1181	c.843G>C	c.(841-843)atG>atC	p.M281I	PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Missense_Mutation_p.M281I|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.M271I|PCBP3_ENST00000400308.1_Missense_Mutation_p.M255I|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.M280I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	281					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		aaaatctgatgggccagtcat	0.547000													17	38					0	0	0.008871	0	0
OR7G1	125962	broad.mit.edu	37	19	9226035	9226035	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:9226035G>A	ENST00000293614.1	-	1	404	c.405C>T	c.(403-405)ctC>ctT	p.L135L	OR7G1_ENST00000541538.1_Silent_p.L135L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGACATTCATGAGGACTGTGT	0.493000													28	98					0	0	0.006320	0	0
BCOR	54880	broad.mit.edu	37	X	39930340	39930340	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:39930340C>T	ENST00000342274.4	-	6	3486	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1042					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTGCACATCTCGGAGTCTTTG	0.488000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						34	28					0	0	0.012213	0	0
ZBTB37	84614	broad.mit.edu	37	1	173842693	173842693	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:173842693C>A	ENST00000427304.1	+	4	1288	c.1012C>A	c.(1012-1014)Ccc>Acc	p.P338T	ZBTB37_ENST00000432989.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000367702.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367701.4_Missense_Mutation_p.P338T	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCTAAGCAACCCAGCTCCCA	0.458000													14	66					6.72482e-11	7.14112e-11	0.024245	1	0
SATB1	6304	broad.mit.edu	37	3	18393545	18393545	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:18393545G>A	ENST00000338745.6	-	10	3452	c.1718C>T	c.(1717-1719)gCg>gTg	p.A573V	SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	573					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGATGCACCGCGTTGCTCTC	0.498000													37	112					0	0	0.025465	0	0
DIP2A	23181	broad.mit.edu	37	21	47969758	47969758	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47969758C>T	ENST00000318711.7	+	22	2783	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	866					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGATGCCTCGGAGGAGGAC	0.642000													37	118					0	0	0.021022	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812008	30812008	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557000													30	110					0	0	0.009535	0	0
MRGPRF	116535	broad.mit.edu	37	11	68772961	68772961	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:68772961C>T	ENST00000309099.6	-	3	1199	c.817G>A	c.(817-819)Gag>Aag	p.E273K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E273K	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGACGTACTCGGGGAAGGGG	0.612000													4	7					0	0	0.021553	0	0
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:89583679C>G	ENST00000402738.1	+	11	1483	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.S415*|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348000													21	55					0	0	0.018920	0	0
SPTA1	6708	broad.mit.edu	37	1	158650472	158650472	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:158650472G>A	ENST00000368148.3	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T	SPTA1_ENST00000368147.3_Silent_p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	193					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGAACTTCGGTGCGCTCCC	0.463000													36	125					0	0	0.015359	0	0
MST1L	11223	broad.mit.edu	37	1	17083837	17083837	+	RNA	SNP	T	T	C	rs7798	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:17083837T>C	ENST00000455405.2	-	0	751																											CTAATTCCTTTCAGGACCCAG	0.572000													3	63					0	0	0.014758	0	0
ACTA1	58	broad.mit.edu	37	1	229567573	229567573	+	Silent	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:229567573C>A	ENST00000366684.3	-	6	987	c.885G>T	c.(883-885)ctG>ctT	p.L295L	ACTA1_ENST00000366683.2_Silent_p.L207L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	295					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.L295L(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGTTGGCATACAGGTCCTTCC	0.597000													4	126					0.00116845	0.00120075	0.021553	1	0
CACNA1D	776	broad.mit.edu	37	3	53844075	53844075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:53844075G>A	ENST00000288139.3	+	48	6120	c.6002G>A	c.(6001-6003)tGg>tAg	p.W2001*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W1957*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.W1981*|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1981					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACCCGGTCGTGGGCCACCCCT	0.612000													24	77					0	0	0.024334	0	0
DNAJC18	202052	broad.mit.edu	37	5	138773229	138773229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:138773229C>T	ENST00000302060.5	-	2	139	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	20					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGTTTCTTCTAACTGCGTC	0.478000													25	96					0	0	0.024334	0	0
COL5A1	1289	broad.mit.edu	37	9	137591821	137591821	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:137591821T>C	ENST00000371817.3	+	3	758	c.344T>C	c.(343-345)tTc>tCc	p.F115S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	115	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCAGGCCTTCCTGGTCTCC	0.587000													30	93					0	0	0.008361	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672668	141672668	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:141672668G>A	ENST00000547270.1	-	1	905	c.822C>T	c.(820-822)cgC>cgT	p.R274R		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTATTTTGTCGCGCCACAGAA	0.502000													23	67					0	0	0.021523	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834671	94834671	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:94834671C>T	ENST00000371531.1	+	3	721	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	CYP26A1_ENST00000394139.1_Missense_Mutation_p.L115F|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L184F	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	184					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGTGAAGCGCCTCATGTTCCG	0.652000													3	105					0	0	0.009096	0	0
CBR3	874	broad.mit.edu	37	21	37507579	37507579	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:37507579C>T	ENST00000290354.5	+	1	370	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	30						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						CGACAGTTCTCTGGGGATGTG	0.726000													3	13					0	0	0.004672	0	0
OR52B6	340980	broad.mit.edu	37	11	5602923	5602923	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:5602923C>A	ENST00000345043.2	+	1	817	c.817C>A	c.(817-819)Cct>Act	p.P273T	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTATGTCCCTGCGCTTTT	0.517000													54	233					1.91123e-38	2.16347e-38	0.014410	1	0
MGAT4B	11282	broad.mit.edu	37	5	179228838	179228838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:179228838C>G	ENST00000337755.5	-	1	1160	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.E77Q	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTGCCTTTCTGACACGGCC	0.672000											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	35					0	0	0.006214	0	0
IL18BP	10068	broad.mit.edu	37	11	71712615	71712615	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:71712615G>C	ENST00000497194.2	+	4	1896	c.524G>C	c.(523-525)aGa>aCa	p.R175T	IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000531053.1_Missense_Mutation_p.R175T|IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000404792.1_Intron|IL18BP_ENST00000393703.4_Intron|IL18BP_ENST00000260049.5_Intron|IL18BP_ENST00000393705.4_Intron			O95998	I18BP_HUMAN	interleukin 18 binding protein	0					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGCCCAAGGAGAGGCCTCCAG	0.607000													4	19					0	0	0.009096	0	0
ITSN2	50618	broad.mit.edu	37	2	24521584	24521584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:24521584C>A	ENST00000355123.4	-	13	1887	c.1444G>T	c.(1444-1446)Gtc>Ttc	p.V482F	ITSN2_ENST00000361999.3_Missense_Mutation_p.V482F|ITSN2_ENST00000406921.3_Missense_Mutation_p.V482F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	482					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAACCTGACAATTTCTTCT	0.398000													36	135					4.11147e-13	4.47248e-13	0.017118	1	0
NFAT5	10725	broad.mit.edu	37	16	69681025	69681025	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:69681025C>T	ENST00000349945.1	+	5	1618	c.66C>T	c.(64-66)acC>acT	p.T22T	NFAT5_ENST00000354436.2_Silent_p.T98T|NFAT5_ENST00000566899.1_Silent_p.T22T|NFAT5_ENST00000432919.1_Silent_p.T116T|NFAT5_ENST00000393742.2_Silent_p.T22T|NFAT5_ENST00000567239.1_Silent_p.T116T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	98					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCAGTCACCGACAGCAAGG	0.532000													96	302					0	0	0.014410	0	0
C17orf74	201243	broad.mit.edu	37	17	7329025	7329025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:7329025G>A	ENST00000333870.3	+	1	92	c.18G>A	c.(16-18)tgG>tgA	p.W6*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W6*	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	6						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCAGCTATGGCATAACACCG	0.592000													65	170					0	0	0.014410	0	0
RPA1	6117	broad.mit.edu	37	17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488000								Nucleotide excision repair (NER)					24	105					0	0	0.021523	0	0
KCNQ3	3786	broad.mit.edu	37	8	133144493	133144493	+	Silent	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133144493G>C	ENST00000388996.4	-	14	2238	c.1818C>G	c.(1816-1818)gcC>gcG	p.A606A	KCNQ3_ENST00000519445.1_Silent_p.A594A|KCNQ3_ENST00000521134.1_Silent_p.A486A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	606					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGATGGTCTGGCTACATATG	0.403000													57	71					0	0	0.014410	0	0
PDE1A	5136	broad.mit.edu	37	2	183129053	183129053	+	Missense_Mutation	SNP	C	C	G	rs149743969		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:183129053C>G	ENST00000435564.1	-	2	390	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	PDE1A_ENST00000331935.6_Missense_Mutation_p.E64Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E48Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E48Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.E64Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	64					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACTGCTTCCAGCACAGAT	0.378000													23	100					0	0	0.024334	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938851	119938851	+	Silent	SNP	G	G	A	rs150457771		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:119938851G>A	ENST00000297350.4	-	4	1077	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	233	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTCTCTGCGTTTACTTTGG	0.443000													52	201					0	0	0.014410	0	0
CPM	1368	broad.mit.edu	37	12	69250409	69250409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69250409C>G	ENST00000551568.1	-	9	1200	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	CPM_ENST00000338356.3_Missense_Mutation_p.E380D|CPM_ENST00000546373.1_Missense_Mutation_p.E380D	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	380					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTGGGATTTCTCCGGAATAA	0.408000													38	123					0	0	0.021022	0	0
SPRY1	10252	broad.mit.edu	37	4	124323279	124323279	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:124323279A>G	ENST00000394339.2	+	2	873	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SPRY1_ENST00000339241.1_Missense_Mutation_p.K178R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	178					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACACAGCACAAGTTCATTTGT	0.527000													35	84					0	0	0.013726	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459257	87459257	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:87459257G>C	ENST00000338056.3	+	12	1745	c.1334G>C	c.(1333-1335)aGt>aCt	p.S445T	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S379T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S428T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	445										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCAGTGGCAAGTTACAAGTCT	0.378000													55	163					0	0	0.014410	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607000													43	137					0	0	0.014410	0	0
THEMIS	387357	broad.mit.edu	37	6	128150927	128150927	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:128150927G>T	ENST00000368250.1	-	4	664	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q100K|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q135K|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q135K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	135	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCATGATTTGCTCACCCTGC	0.403000													69	196					3.31162e-33	3.72975e-33	0.014410	1	0
SPDYE3	441272	broad.mit.edu	37	7	99917323	99917323	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:99917323G>A	ENST00000332397.6	+	9	1666	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	SPDYE3_ENST00000437326.2_Silent_p.P117P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	494										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCATGAACCCGAGGGCCAGGA	0.547000													37	118					0	0	0.017118	0	0
PSG11	5680	broad.mit.edu	37	19	43530465	43530465	+	Silent	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:43530465G>C	ENST00000401740.1	-	1	163	c.60C>G	c.(58-60)ctC>ctG	p.L20L	PSG11_ENST00000320078.7_Silent_p.L20L|PSG11_ENST00000306322.7_Silent_p.L20L|PSG11_ENST00000403486.1_Silent_p.L20L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	20					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCTCACCTGTGAGCAGGAGCC	0.562000													46	204					0	0	0.014410	0	0
MTA3	57504	broad.mit.edu	37	2	42909708	42909708	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:42909708C>A	ENST00000405592.1	+	10	1372	c.702C>A	c.(700-702)ttC>ttA	p.F234L	MTA3_ENST00000406652.1_Missense_Mutation_p.F234L|MTA3_ENST00000406911.1_Missense_Mutation_p.F290L|MTA3_ENST00000405094.1_Missense_Mutation_p.F290L|MTA3_ENST00000407270.3_Missense_Mutation_p.F290L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	290	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GCAAAGACTTCAATGACATAC	0.363000													4	16					0.00024832	0.000256367	0.009096	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	40					0	0	0.003080	0	0
ABCB6	10058	broad.mit.edu	37	2	220081144	220081144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220081144C>T	ENST00000265316.3	-	4	1228	c.912G>A	c.(910-912)tgG>tgA	p.W304*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.W258*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	304	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTAACAGTCCAGGCCAGAG	0.552000													18	95					0	0	0.010504	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:64085080G>A	ENST00000295902.6	-	8	2767	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617000													4	104					0	0	0.009096	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821202	10821202	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:10821202T>C	ENST00000526148.1	-	19	2731	c.2221A>G	c.(2221-2223)Ata>Gta	p.I741V	EIF4G2_ENST00000339995.5_Missense_Mutation_p.I741V|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I703V|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I741V	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	741	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAACTTTATTTGCTTCAAC	0.368000													43	127					0	0	0.010771	0	0
DAB2	1601	broad.mit.edu	37	5	39382739	39382739	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:39382739C>G	ENST00000320816.6	-	10	1789	c.1322G>C	c.(1321-1323)aGa>aCa	p.R441T	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.R420T|DAB2_ENST00000509337.1_Missense_Mutation_p.R420T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	441					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCTTCTGCCTCTTCCTGGTTT	0.483000													45	149					0	0	0.013114	0	0
ITGAD	3681	broad.mit.edu	37	16	31404708	31404708	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:31404708G>A	ENST00000389202.2	+	1	76	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	9					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTTCTTCTGAGTGGTAAGT	0.627000													62	159					0	0	0.014410	0	0
C10orf113	387638	broad.mit.edu	37	10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:21435284G>A	ENST00000529198.1	-	1	204	c.154C>T	c.(154-156)Cca>Tca	p.P52S	C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.P52S	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443000													31	106					0	0	0.010818	0	0
NOS2	4843	broad.mit.edu	37	17	26101285	26101285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:26101285G>T	ENST00000313735.6	-	12	1707	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	492					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCCTAACCTGATAGTAGTAG	0.547000													11	31					7.03913e-09	7.40436e-09	0.013537	1	0
VRK2	7444	broad.mit.edu	37	2	58350334	58350334	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:58350334A>G	ENST00000435505.2	+	11	1387	c.642A>G	c.(640-642)atA>atG	p.I214M	VRK2_ENST00000412104.2_Missense_Mutation_p.I214M|VRK2_ENST00000440705.2_Missense_Mutation_p.I191M|VRK2_ENST00000340157.4_Missense_Mutation_p.I214M|VRK2_ENST00000417641.2_Missense_Mutation_p.I214M			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	214	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATGGGACAATAGAGTTTACCA	0.383000													3	203					0	0	0.009096	0	0
RASGRF2	5924	broad.mit.edu	37	5	80422959	80422959	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:80422959C>A	ENST00000265080.4	+	17	2730	c.2663C>A	c.(2662-2664)gCa>gAa	p.A888E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	888					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCACAGCTGCAGCAGGACAT	0.498000													10	53					1.61879e-10	1.71086e-10	0.013537	1	0
FCGBP	8857	broad.mit.edu	37	19	40392591	40392591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:40392591C>T	ENST00000221347.6	-	16	7920	c.7913G>A	c.(7912-7914)gGg>gAg	p.G2638E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2638	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)			GCCCTCGCTCCCCGGCGGGCA	0.667000													19	66					0	0	0.012319	0	0
DLC1	10395	broad.mit.edu	37	8	12957760	12957760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:12957760C>T	ENST00000276297.4	-	9	2495	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R	DLC1_ENST00000358919.2_Missense_Mutation_p.G259R|DLC1_ENST00000512044.2_Missense_Mutation_p.G293R|DLC1_ENST00000520226.1_Missense_Mutation_p.G185R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	696					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGATGGGCCCGCTGATGATC	0.572000													92	110					0	0	0.014410	0	0
EGR1	1958	broad.mit.edu	37	5	137802445	137802445	+	Splice_Site	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137802445G>C	ENST00000239938.4	+	2	579		c.e2-1			NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1						cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCCTGCCAGAGTCTTTTCC	0.592000													68	280					0	0	0.014410	0	0
DNM3	26052	broad.mit.edu	37	1	172348185	172348185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:172348185G>C	ENST00000358155.4	+	18	2097	c.1921G>C	c.(1921-1923)Gaa>Caa	p.E641Q	DNM3_ENST00000355305.5_Missense_Mutation_p.E647Q|DNM3_ENST00000367731.1_Missense_Mutation_p.E637Q	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	647					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGACAAGCAGAAAACTTTTC	0.388000													13	36					0	0	0.016723	0	0
ZNF521	25925	broad.mit.edu	37	18	22805215	22805215	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:22805215G>A	ENST00000361524.3	-	4	2815	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	ZNF521_ENST00000584787.1_Silent_p.D669D|ZNF521_ENST00000538137.2_Silent_p.D889D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	889					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCCCACAAATGTCGCAGCCGT	0.522000			T	PAX5	ALL								27	67					0	0	0.007291	0	0
DDX60L	91351	broad.mit.edu	37	4	169341482	169341482	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:169341482G>A	ENST00000511577.1	-	18	2691	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	DDX60L_ENST00000260184.7_Missense_Mutation_p.T815M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T815M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	815	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGCAGGCAACGTTTTAGTAAA	0.363000													5	31					0	0	0.014758	0	0
KRT12	3859	broad.mit.edu	37	17	39019389	39019389	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:39019389G>A	ENST00000251643.4	-	6	1325	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	434	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGGCCTCCCCGTCCAGCAGGC	0.612000													19	67					0	0	0.010504	0	0
HHIPL1	84439	broad.mit.edu	37	14	100119154	100119154	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:100119154C>T	ENST00000330710.5	+	2	947	c.849C>T	c.(847-849)agC>agT	p.S283S	HHIPL1_ENST00000357223.2_Silent_p.S283S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	283					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCCGCATCAGCGAGTTCAGAG	0.617000													18	53					0	0	0.012319	0	0
PRG2	5553	broad.mit.edu	37	11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:57155245C>T	ENST00000311862.5	-	5	665	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	PRG2_ENST00000533605.1_Missense_Mutation_p.V187M|PRG2_ENST00000525955.1_Missense_Mutation_p.V198M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGGGCCACGCAGTGACCA	0.617000													3	14					0	0	0.009096	0	0
RSPO2	340419	broad.mit.edu	37	8	108913336	108913336	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:108913336G>T	ENST00000276659.5	-	6	1319	c.699C>A	c.(697-699)agC>agA	p.S233R	RSPO2_ENST00000517939.1_Missense_Mutation_p.S166R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169R|RSPO2_ENST00000378439.2_Missense_Mutation_p.S169R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	233					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTAGGAAGACGCTGTGTTGCT	0.433000													22	147					5.35356e-11	5.71217e-11	0.016522	1	0
TTN	7273	broad.mit.edu	37	2	179427722	179427722	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:179427722C>T	ENST00000589042.1	-	326	83361	c.83137G>A	c.(83137-83139)Gaa>Aaa	p.E27713K	TTN_ENST00000460472.2_Missense_Mutation_p.E18648K|TTN_ENST00000342992.6_Missense_Mutation_p.E25145K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18840K|TTN_ENST00000359218.5_Missense_Mutation_p.E18773K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26072K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26072	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATGCCTTCTGCCTTTTCC	0.438000													30	131					0	0	0.008361	0	0
KLHL13	90293	broad.mit.edu	37	X	117033238	117033238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:117033238C>A	ENST00000371876.1	-	6	3869	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	KLHL13_ENST00000540167.1_Missense_Mutation_p.G518V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G483V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G492V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G537V|KLHL13_ENST00000371878.1_Missense_Mutation_p.G483V|KLHL13_ENST00000262820.3_Missense_Mutation_p.G534V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G518V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G483V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	534					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAGCCTTTCTCCCACTGTACA	0.458000													175	184					1.12187e-70	1.28296e-70	0.014410	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26156774	26156774	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:26156774G>A	ENST00000304218.3	+	1	216	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	52	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGCCTCCAAGGAGCGCAGCG	0.607000													7	56					0	0	0.001984	0	0
NDST3	9348	broad.mit.edu	37	4	119059259	119059259	+	Silent	SNP	G	G	T	rs142162150		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:119059259G>T	ENST00000296499.5	+	5	1678	c.1275G>T	c.(1273-1275)tcG>tcT	p.S425S	NDST3_ENST00000433996.2_Silent_p.S344S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	425	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S425S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTCACCATTCGGGCGTCTACC	0.473000													32	119					6.03168e-27	6.75912e-27	0.021022	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40842782	40842782	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587000													4	209					0	0	0.009096	0	0
FAM196A	642938	broad.mit.edu	37	10	128974488	128974488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:128974488C>A	ENST00000522781.1	-	4	727	c.172G>T	c.(172-174)Gag>Tag	p.E58*	FAM196A_ENST00000424811.2_Nonsense_Mutation_p.E58*|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	58										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCTCTGCTCATTCTGTGCC	0.587000													56	187					4.00338e-15	4.37624e-15	0.014410	1	0
LILRA4	23547	broad.mit.edu	37	19	54849916	54849916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:54849916C>T	ENST00000291759.4	-	3	162	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	36	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ATCACGGGACCTGGCTCGGCC	0.572000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	37	93					0	0	0.021022	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433477	73433477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:73433477G>A	ENST00000263666.4	-	10	2354	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	PDZRN3_ENST00000535920.1_Missense_Mutation_p.P469L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P404L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P464L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P404L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	747							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGATTTCTCCGGGAGCTCGGT	0.612000													11	46					0	0	0.010729	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821361	203821361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:203821361G>A	ENST00000545588.1	+	17	6094	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R756Q	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	756							nucleic acid binding|protein binding|zinc ion binding	p.R756L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAACTCGCCGACTCAGCTCT	0.507000													36	83					0	0	0.017118	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701274	139701274	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:139701274C>T	ENST00000338005.6	+	12	1379	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	448										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGGGAAGCTCACGTACCTGG	0.617000													11	50					0	0	0.008291	0	0
MAD1L1	8379	broad.mit.edu	37	7	2265120	2265120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:2265120C>T	ENST00000406869.1	-	4	773	c.216G>A	c.(214-216)atG>atA	p.M72I	MAD1L1_ENST00000265854.7_Missense_Mutation_p.M72I|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M72I|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	72					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCTCCATCTGCATTTTCTCCC	0.587000													38	93					0	0	0.025465	0	0
PLEC	5339	broad.mit.edu	37	8	144991583	144991583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:144991583C>T	ENST00000322810.4	-	32	12986	c.12817G>A	c.(12817-12819)Gtg>Atg	p.V4273M	PLEC_ENST00000345136.3_Missense_Mutation_p.V4136M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4140M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4159M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4114M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4163M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4104M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4136M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4273	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTTGCGCACGGAGGACTTG	0.617000													25	106					0	0	0.027356	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467435	25467435	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:25467435G>A	ENST00000264709.3	-	14	1978	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	DNMT3A_ENST00000321117.5_Silent_p.L547L|DNMT3A_ENST00000380746.4_Silent_p.L358L|DNMT3A_ENST00000402667.1_Silent_p.L324L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	547	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGCACATGAGCACCTCAC	0.632000			"""Mis, F, N, S"""		AML								15	49					0	0	0.004990	0	0
TMTC3	160418	broad.mit.edu	37	12	88589182	88589182	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:88589182C>G	ENST00000266712.6	+	14	2721	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	835						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGTAAGATTTCAAGTGTGGAA	0.338000													97	120					0	0	0.014410	0	0
ERAP1	51752	broad.mit.edu	37	5	96136692	96136692	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:96136692G>A	ENST00000296754.3	-	3	793	c.536C>T	c.(535-537)tCa>tTa	p.S179L	ERAP1_ENST00000443439.2_Missense_Mutation_p.S179L	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	179					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAATTGTGTTGATGCTAGTAT	0.378000													23	95					0	0	0.014323	0	0
SHPRH	257218	broad.mit.edu	37	6	146271470	146271470	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:146271470C>G	ENST00000367503.3	-	4	1310	c.912G>C	c.(910-912)ttG>ttC	p.L304F	SHPRH_ENST00000275233.7_Missense_Mutation_p.L304F|SHPRH_ENST00000367505.2_Missense_Mutation_p.L304F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L304F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	304					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTAGGGTCTCAACACAGGGA	0.433000													3	218					0	0	0.009096	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251958	12251958	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:12251958G>A	ENST00000376259.3	+	4	524	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.P145P	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	145					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	AGTGCCGCCCGGGCTTCGGCG	0.687000													30	19					0	0	0.013726	0	0
FCRLB	127943	broad.mit.edu	37	1	161693366	161693366	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:161693366C>T	ENST00000367948.2	+	5	477	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	FCRLB_ENST00000336830.5_Missense_Mutation_p.R88W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R81W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R88W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R81W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	88	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCCAGACACGGGGAGCACC	0.577000													30	65					0	0	0.007291	0	0
ADAR	103	broad.mit.edu	37	1	154574600	154574600	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154574600T>C	ENST00000368474.4	-	2	717	c.518A>G	c.(517-519)aAt>aGt	p.N173S	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.N216S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	173					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAAAACTCGATTGATTTCTTT	0.498000													81	275					0	0	0.014410	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:102988581C>T	ENST00000375735.2	+	6	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333000													9	38					0	0	0.004482	0	0
LRRC47	57470	broad.mit.edu	37	1	3703592	3703592	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:3703592C>G	ENST00000378251.1	-	2	925	c.898G>C	c.(898-900)Gac>Cac	p.D300H		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	300					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tctcccacgtcctgctcctcc	0.657000													17	14					0	0	0.006122	0	0
PHKB	5257	broad.mit.edu	37	16	47694703	47694703	+	Silent	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:47694703C>G	ENST00000455779.1	+	23	2333	c.2148C>G	c.(2146-2148)ccC>ccG	p.P716P	PHKB_ENST00000323584.5_Silent_p.P723P|PHKB_ENST00000566044.1_Silent_p.P716P|PHKB_ENST00000299167.8_Silent_p.P723P			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	723					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGGACAAACCCACCCACGAAA	0.488000													28	137					0	0	0.027356	0	0
ZNF283	284349	broad.mit.edu	37	19	44341279	44341279	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:44341279G>A	ENST00000324461.7	+	6	582	c.285G>A	c.(283-285)agG>agA	p.R95R	ZNF283_ENST00000310738.8_Silent_p.R59R|ZNF283_ENST00000593164.1_Silent_p.R70R|ZNF283_ENST00000590950.1_Silent_p.R70R|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Silent_p.R95R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTGCTCAGAGGGACTTGTACG	0.463000													39	86					0	0	0.023175	0	0
F2RL1	2150	broad.mit.edu	37	5	76128686	76128686	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:76128686T>C	ENST00000296677.4	+	2	460	c.254T>C	c.(253-255)gTg>gCg	p.V85A		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	85					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TACACAATTGTGTTTGTGGTG	0.463000													59	189					0	0	0.014410	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902248	14902248	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:14902248C>G	ENST00000334636.5	-	3	480	c.434G>C	c.(433-435)cGa>cCa	p.R145P	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	145					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCCAAAATATCGAAAACTGTT	0.323000													12	58					0	0	0.024245	0	0
ERBB4	2066	broad.mit.edu	37	2	212488710	212488710	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:212488710C>G	ENST00000342788.4	-	18	2449	c.2139G>C	c.(2137-2139)ttG>ttC	p.L713F	ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	713					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTTTCTTTCAAAATACGAA	0.403000										TSP Lung(8;0.080)			24	71					0	0	0.018920	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956467	143956467	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:143956467C>T	ENST00000292427.4	-	8	1336	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506D	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	435					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAAGTTCCTGCCGGAGCCCCT	0.637000									Familial Hyperaldosteronism type I				59	110					0	0	0.014410	0	0
PHLDB1	23187	broad.mit.edu	37	11	118506147	118506147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:118506147G>C	ENST00000361417.2	+	11	2827	c.2416G>C	c.(2416-2418)Gag>Cag	p.E806Q	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E806Q	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	806										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AAAGCTCTTTGAGGACTTGGA	0.637000													46	149					0	0	0.013114	0	0
SPATA25	128497	broad.mit.edu	37	20	44515723	44515723	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:44515723C>T	ENST00000372519.3	-	2	161	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	39						integral to membrane											CACCAGAGGCCACCACCACTG	0.607000													36	102					0	0	0.021022	0	0
PURB	5814	broad.mit.edu	37	7	44924866	44924866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44924866C>A	ENST00000395699.2	-	1	94	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	28					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GTCTCTTGCTCGCCGCCGCCG	0.692000													4	12					2.0095e-06	2.09401e-06	0.001984	1	0
RECQL	5965	broad.mit.edu	37	12	21626554	21626554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:21626554G>C	ENST00000444129.2	-	12	1846	c.1378C>G	c.(1378-1380)Caa>Gaa	p.Q460E	RECQL_ENST00000421138.2_Missense_Mutation_p.Q460E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	460					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAAAATGTTGAGCCATCAAC	0.323000								Other identified genes with known or suspected DNA repair function					17	57					0	0	0.012319	0	0
ABHD15	116236	broad.mit.edu	37	17	27889909	27889909	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27889909G>A	ENST00000307201.4	-	2	1247	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	359						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACACGGGGTCGTCAGCACTGC	0.602000													12	101					0	0	0.016723	0	0
RAP1B	5908	broad.mit.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363000													27	46					0	0	0.009535	0	0
NOP14	8602	broad.mit.edu	37	4	2948177	2948177	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:2948177C>G	ENST00000416614.2	-	11	1662	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E533Q|NOP14_ENST00000502735.1_Missense_Mutation_p.E533Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	533					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCTTTGGTCTCAATCATTTCT	0.488000													29	81					0	0	0.015359	0	0
NIPAL4	348938	broad.mit.edu	37	5	156895764	156895764	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:156895764C>T	ENST00000311946.7	+	4	671	c.555C>T	c.(553-555)taC>taT	p.Y185Y	NIPAL4_ENST00000435489.2_Silent_p.Y166Y|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	185						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTGGAGCCTACGCATTTGCAC	0.507000													36	96					0	0	0.021022	0	0
MYO15A	51168	broad.mit.edu	37	17	18022599	18022599	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:18022599G>A	ENST00000205890.5	+	2	823	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	162	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)					TGGCTGCAGCGCTCGAGCTCC	0.677000													11	65					0	0	0.013537	0	0
SGPP1	81537	broad.mit.edu	37	14	64153029	64153029	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:64153029C>G	ENST00000247225.6	-	3	1214	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	374						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGTACAAATACCATCCCTATG	0.383000													96	222					0	0	0.014410	0	0
FBXO31	79791	broad.mit.edu	37	16	87367628	87367628	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:87367628C>T	ENST00000311635.7	-	8	1273	c.1261G>A	c.(1261-1263)Ggt>Agt	p.G421S	RP11-178L8.4_ENST00000568879.1_Silent_p.L84L	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	421					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCATCCTCACCAGGTGTCCCA	0.746000													8	29					0	0	0.004482	0	0
SLC23A2	9962	broad.mit.edu	37	20	4850573	4850573	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:4850573G>T	ENST00000379333.1	-	12	1621	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC23A2_ENST00000424750.2_Missense_Mutation_p.P296H|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P410H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	410					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGGATGGGGGGGGGTGGGGC	0.542000													36	75					6.90743e-12	7.47746e-12	0.017118	1	0
LRP6	4040	broad.mit.edu	37	12	12284775	12284775	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:12284775G>A	ENST00000261349.4	-	18	4026	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	LRP6_ENST00000543091.1_Missense_Mutation_p.S1272L|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1317	LDL-receptor class A 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTTCTCATCTGATTTGTCCTG	0.448000													38	150					0	0	0.027894	0	0
OR10W1	81341	broad.mit.edu	37	11	58034971	58034971	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532000													9	36					0	0	0.004482	0	0
IPO7	10527	broad.mit.edu	37	11	9430055	9430055	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:9430055G>C	ENST00000379719.3	+	3	331	c.189G>C	c.(187-189)atG>atC	p.M63I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	63	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAAAATATGATAACACAGT	0.363000													20	59					0	0	0.007413	0	0
ZBBX	79740	broad.mit.edu	37	3	167068267	167068267	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:167068267A>T	ENST00000392766.2	-	9	809	c.469T>A	c.(469-471)Tgc>Agc	p.C157S	ZBBX_ENST00000307529.5_Missense_Mutation_p.C157S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C157S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.C128S|ZBBX_ENST00000455345.2_Missense_Mutation_p.C157S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	157						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTAGCAAAGCATCCTGAACAA	0.303000													6	370					0	0	0.021553	0	0
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:119923746C>T	ENST00000361035.4	+	3	360	c.77C>T	c.(76-78)gCg>gTg	p.A26V	HAO2_ENST00000325945.3_Missense_Mutation_p.A13V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	13	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473000													6	259					0	0	0.001984	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590604	140590604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:140590604G>A	ENST00000239450.2	+	1	2314	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V372M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		709					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.697000													44	199					0	0	0.014410	0	0
TG	7038	broad.mit.edu	37	8	133978843	133978843	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133978843C>A	ENST00000220616.4	+	30	5627	c.5587C>A	c.(5587-5589)Cag>Aag	p.Q1863K	TG_ENST00000542445.1_Missense_Mutation_p.Q233K|TG_ENST00000519543.1_Missense_Mutation_p.Q17K|TG_ENST00000377869.1_Missense_Mutation_p.Q1806K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1863					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACCTCAACCAGGTCATTGT	0.453000													35	155					2.52637e-11	2.70856e-11	0.023175	1	0
NUP93	9688	broad.mit.edu	37	16	56878443	56878443	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:56878443C>G	ENST00000569842.1	+	23	2596	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	NUP93_ENST00000542526.1_Silent_p.T671T|NUP93_ENST00000308159.5_Silent_p.T794T|NUP93_ENST00000564887.1_Silent_p.T671T			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTGATTACCTTTGCTGGAA	0.498000													27	38					0	0	0.007291	0	0
IFNA16	3449	broad.mit.edu	37	9	21216761	21216761	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:21216761G>T	ENST00000380216.1	-	1	549	c.544C>A	c.(544-546)Caa>Aaa	p.Q182K		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	182					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AATCCTTTTTGCAAGTTTGTT	0.373000													190	422					8.32648e-103	9.57116e-103	0.014410	1	0
FAM179B	23116	broad.mit.edu	37	14	45432126	45432126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:45432126G>A	ENST00000361462.2	+	1	685	c.502G>A	c.(502-504)Gag>Aag	p.E168K	FAM179B_ENST00000361577.3_Missense_Mutation_p.E168K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E168K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	168							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGTCAGGGGGAGGCAGGCCA	0.562000													157	102					0	0	0.014410	0	0
KIF22	3835	broad.mit.edu	37	16	29811084	29811084	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:29811084G>A	ENST00000561482.1	+	7	1559	c.922G>A	c.(922-924)Gag>Aag	p.E308K	KIF22_ENST00000400751.5_Missense_Mutation_p.E308K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.E376K|KIF22_ENST00000569382.2_Missense_Mutation_p.E308K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	376					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TTTTACCAATGAGAGCCTGCA	0.532000													13	35					0	0	0.013537	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451226	22451226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451226C>G	ENST00000325870.1	+	2	1056	c.831C>G	c.(829-831)atC>atG	p.I277M		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	277					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTGATAGTATCCTGTCTCCTC	0.438000													39	66					0	0	0.008740	0	0
RBM43	375287	broad.mit.edu	37	2	152107860	152107860	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:152107860C>T	ENST00000331426.5	-	4	785	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	212							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTAGCAGTCTCAGGTACTAAG	0.393000													48	127					0	0	0.014410	0	0
FBXO38	81545	broad.mit.edu	37	5	147796565	147796565	+	Silent	SNP	T	T	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:147796565T>G	ENST00000340253.5	+	12	1584	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	FBXO38_ENST00000296701.6_Silent_p.A472A|FBXO38_ENST00000513826.1_Silent_p.A472A|FBXO38_ENST00000394370.3_Silent_p.A472A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	472						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTTGTGCTCGAGTTGGTC	0.373000													18	50					0	0	0.010504	0	0
SSH2	85464	broad.mit.edu	37	17	27959836	27959836	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27959836C>G	ENST00000269033.3	-	15	2446	c.2295G>C	c.(2293-2295)caG>caC	p.Q765H	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q792H	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	765					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGTTGAATCTGCCCAACTC	0.468000													36	63					0	0	0.017118	0	0
SLC28A2	9153	broad.mit.edu	37	15	45564978	45564978	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:45564978C>G	ENST00000347644.3	+	17	1920	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA|SLC28A2_ENST00000560767.1_3'UTR	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	619					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.Q619E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGGGCTCTTTCAGAGGTGAGC	0.522000													22	51					0	0	0.016522	0	0
MYH13	8735	broad.mit.edu	37	17	10219279	10219279	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10219279C>T	ENST00000418404.3	-	27	3965	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	MYH13_ENST00000570743.1_Missense_Mutation_p.E1268K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1268K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1268					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCTGTTGCTCGTCCTTGGCT	0.463000													48	156					0	0	0.014410	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374610	8374610	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:8374610G>A	ENST00000538603.1	-	7	1761	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	FAM90A1_ENST00000307435.6_Silent_p.N401N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	401							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCAGCGTCCGTTTTCCAGTC	0.622000													15	41					0	0	0.004990	0	0
TADA3	10474	broad.mit.edu	37	3	9828794	9828794	+	Splice_Site	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:9828794C>T	ENST00000343450.2	-	6	1254		c.e6-1		TADA3_ENST00000301964.2_Splice_Site|TADA3_ENST00000440161.1_Splice_Site	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3						estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GCATCCACATCTAAGCGGGCA	0.597000											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	212					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTTGGTGACGTACTCATTG	0.567000													145	91					0	0	0.014410	0	0
CACNA1S	779	broad.mit.edu	37	1	201079386	201079386	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:201079386G>A	ENST00000362061.3	-	2	390	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T55M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	55					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAGATGATCGTCTCGAAGGG	0.572000													24	53					0	0	0.018920	0	0
SALL3	27164	broad.mit.edu	37	18	76754267	76754267	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:76754267G>A	ENST00000536229.3	+	1	2586	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	SALL3_ENST00000575389.2_Missense_Mutation_p.R759H|SALL3_ENST00000537592.2_Missense_Mutation_p.R759H			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCACATCCGCATGCACATG	0.657000													13	45					0	0	0.016723	0	0
NR5A2	2494	broad.mit.edu	37	1	200014674	200014674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:200014674G>A	ENST00000367362.3	+	4	671	c.425G>A	c.(424-426)cGt>cAt	p.R142H	NR5A2_ENST00000236914.3_Missense_Mutation_p.R96H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R70H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	142					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTTACTGTCGTTTTCAAAAA	0.343000													22	73					0	0	0.016522	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139282	90139282	+	RNA	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:90139282C>T	ENST00000492446.1	+	0	82																											TTTCCAATCTCAGGTGCCAGA	0.453000													33	136					0	0	0.014410	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79743947	79743947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:79743947C>G	ENST00000338008.5	+	7	3007	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q943E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q943E	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	943					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCCTATTTCTCAGGTTCCATC	0.373000													27	95					0	0	0.006320	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688638	111688638	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458000													27	87					0	0	0.024334	0	0
MYH13	8735	broad.mit.edu	37	17	10231229	10231229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231229A>T	ENST00000418404.3	-	21	2808	c.2645T>A	c.(2644-2646)gTc>gAc	p.V882D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.V882D|MYH13_ENST00000252172.4_Missense_Mutation_p.V882D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	882					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGGAGGGAGACCATTTTCTC	0.527000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	74					0	0	0.006122	0	0
TMEM161A	54929	broad.mit.edu	37	19	19230817	19230817	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:19230817G>A	ENST00000450333.2	-	10	1090	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	TMEM161A_ENST00000162044.9_Silent_p.L454L|TMEM161A_ENST00000587583.2_Silent_p.L429L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	454					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCCACCAGATGAGGTAGGCCA	0.662000													4	7					0	0	0.009096	0	0
DNHD1	144132	broad.mit.edu	37	11	6540999	6540999	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:6540999C>T	ENST00000254579.6	+	8	2126	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	DNHD1_ENST00000354685.3_Missense_Mutation_p.A521V|DNHD1_ENST00000527990.2_Missense_Mutation_p.A521V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	521					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGAAAGTTTGCCCGCCTGGTT	0.522000													4	101					0	0	0.009096	0	0
NIPBL	25836	broad.mit.edu	37	5	36986387	36986387	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:36986387A>G	ENST00000282516.8	+	10	3604	c.3105A>G	c.(3103-3105)ccA>ccG	p.P1035P	NIPBL_ENST00000448238.2_Silent_p.P1035P|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1035					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAATAAACCATCAAAGTCAA	0.274000													36	102					0	0	0.021022	0	0
EPHA5	2044	broad.mit.edu	37	4	66230776	66230776	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:66230776T>G	ENST00000273854.3	-	12	2795	c.2195A>C	c.(2194-2196)gAt>gCt	p.D732A	EPHA5_ENST00000432638.2_Missense_Mutation_p.D569A|EPHA5_ENST00000354839.4_Missense_Mutation_p.D710A|EPHA5_ENST00000511294.1_Missense_Mutation_p.D733A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	732	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTAGGATGATCAAACTGTCC	0.373000										TSP Lung(17;0.13)			46	177					0	0	0.014410	0	0
FAM221B	392307	broad.mit.edu	37	9	35825248	35825248	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:35825248C>T	ENST00000423537.2	-	3	990	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	241										endometrium(2)|kidney(1)|lung(4)	7						GCATTCAGGGCTGCATCCTTC	0.532000													49	68					0	0	0.014410	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:74228304C>G	ENST00000316292.9	-	5	1793	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	77					0	0	0.016522	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	171					0	0	0.014758	0	0
IRF2	3660	broad.mit.edu	37	4	185311904	185311904	+	Splice_Site	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:185311904C>G	ENST00000393593.3	-	8	902		c.e8-1			NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCGCTTTCTGTTCACAGA	0.532000													27	72					0	0	0.009535	0	0
MYF6	4618	broad.mit.edu	37	12	81101864	81101864	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:81101864C>T	ENST00000228641.3	+	1	588	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	122	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAACTGTGGCCAACCCCAACC	0.617000													15	103					0	0	0.010504	0	0
IDH3A	3419	broad.mit.edu	37	15	78454629	78454629	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:78454629G>A	ENST00000299518.2	+	6	614	c.531G>A	c.(529-531)aaG>aaA	p.K177K	IDH3A_ENST00000441490.2_Silent_p.K68K|IDH3A_ENST00000558554.1_Silent_p.K142K|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	177					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GGGCGAGCAAGCGCATTGCTG	0.562000													31	118					0	0	0.012213	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	167					0	0	0.009096	0	0
TPRA1	131601	broad.mit.edu	37	3	127298632	127298632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:127298632G>A	ENST00000355552.3	-	3	585	c.209C>T	c.(208-210)gCg>gTg	p.A70V	TPRA1_ENST00000489960.1_Missense_Mutation_p.A70V|TPRA1_ENST00000450633.2_Missense_Mutation_p.A70V|TPRA1_ENST00000296210.7_Missense_Mutation_p.A70V	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	70					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCGGATCTTCGCCCGAGCAGA	0.532000													10	34					0	0	0.010729	0	0
ASXL3	80816	broad.mit.edu	37	18	31319619	31319619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:31319619G>C	ENST00000269197.5	+	11	2251	c.2251G>C	c.(2251-2253)Gaa>Caa	p.E751Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	751	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTCCTTCAGAAACATCTCC	0.433000													82	230					0	0	0.014410	0	0
TJP1	7082	broad.mit.edu	37	15	30018667	30018667	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:30018667A>G	ENST00000346128.6	-	18	2802	c.2328T>C	c.(2326-2328)aaT>aaC	p.N776N	TJP1_ENST00000356107.6_Silent_p.N776N|TJP1_ENST00000400011.2_Silent_p.N780N|TJP1_ENST00000545208.2_Silent_p.N776N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	776	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATTCATTGAATTTAAGTTAA	0.373000													33	88					0	0	0.012213	0	0
TPTE	7179	broad.mit.edu	37	21	10951321	10951321	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:10951321G>A	ENST00000298232.7	-	9	704	c.337C>T	c.(337-339)Cta>Tta	p.L113L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L131L|TPTE_ENST00000342420.5_Silent_p.L93L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	131					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAATAGCTAGAGAAATAGAA	0.343000													24	80					0	0	0.024334	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039806	2039806	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:2039806G>A	ENST00000382203.1	+	4	905	c.696G>A	c.(694-696)caG>caA	p.Q232Q	SMARCA2_ENST00000357248.2_Silent_p.Q232Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q232Q|SMARCA2_ENST00000349721.2_Silent_p.Q232Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	232	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcagcagcagc	0.602000													2	1					0	0	0.009096	0	0
ITGAE	3682	broad.mit.edu	37	17	3658514	3658514	+	Silent	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:3658514G>T	ENST00000263087.4	-	12	1379	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	427					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACGCCCCTCCGGACCAGTCAA	0.721000													3	2					0.004672	0.00477916	0.004672	1	0
USP44	84101	broad.mit.edu	37	12	95927270	95927270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:95927270G>A	ENST00000258499.3	-	2	1051	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	USP44_ENST00000537435.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000552440.1_Nonsense_Mutation_p.Q255*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	255					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTGACTTTTTGAGATATTTCA	0.388000													32	206					0	0	0.012213	0	0
ZNF292	23036	broad.mit.edu	37	6	87964636	87964636	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:87964636G>A	ENST00000369577.3	+	8	1332	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C425Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTTTACGCTGTGAGCTGTTA	0.388000													10	46					0	0	0.010729	0	0
CADPS2	93664	broad.mit.edu	37	7	122033249	122033249	+	Splice_Site	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:122033249C>T	ENST00000334010.7	-	20	3424		c.e20+1		CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAATACACACGTGGACTCAT	0.458000													8	27					0	0	0.003080	0	0
CRB3	92359	broad.mit.edu	37	19	6466612	6466612	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:6466612G>A	ENST00000598494.1	+	4	823	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CRB3_ENST00000308243.7_Missense_Mutation_p.E98K|CRB3_ENST00000600229.1_Missense_Mutation_p.E98K|CRB3_ENST00000356762.3_Missense_Mutation_p.E98K			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	98					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCCCAGTAGCGAGGAGCAGGT	0.677000													21	80					0	0	0.014323	0	0
IFFO1	25900	broad.mit.edu	37	12	6659915	6659915	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6659915C>T	ENST00000336604.4	-	3	917	c.876G>A	c.(874-876)ctG>ctA	p.L292L	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000396840.2_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	292						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTTCCACCTTCAGTGCCAGCT	0.582000													31	51					0	0	0.010818	0	0
ANO4	121601	broad.mit.edu	37	12	101477507	101477507	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:101477507A>G	ENST00000392979.3	+	15	1703	c.1342A>G	c.(1342-1344)Aat>Gat	p.N448D	ANO4_ENST00000392977.3_Missense_Mutation_p.N483D|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	483						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGCGGATGAATCCAATTTC	0.383000										HNSCC(74;0.22)			36	178					0	0	0.023175	0	0
SYCP3	50511	broad.mit.edu	37	12	102127427	102127427	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:102127427G>C	ENST00000392927.3	-	6	510	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	SYCP3_ENST00000266743.2_Missense_Mutation_p.Q127E|SYCP3_ENST00000392924.1_Missense_Mutation_p.Q127E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	127	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGAAACTGCTGAGAATATTCT	0.303000													57	79					0	0	0.014410	0	0
BAI3	577	broad.mit.edu	37	6	70098604	70098604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:70098604G>A	ENST00000370598.1	+	32	5211	c.4390G>A	c.(4390-4392)Gca>Aca	p.A1464T	BAI3_ENST00000546190.1_Missense_Mutation_p.A428T|BAI3_ENST00000238918.8_Missense_Mutation_p.A670T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1464					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A1464T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAAAACCCCGCACCAAACAA	0.448000													9	31					0	0	0.008291	0	0
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373000										HNSCC(4;0.00038)			36	40					0	0	0.017118	0	0
SP4	6671	broad.mit.edu	37	7	21469033	21469033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:21469033C>T	ENST00000222584.3	+	3	468	c.250C>T	c.(250-252)Caa>Taa	p.Q84*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	84					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGTGCAACTTCAAAATCAACC	0.433000													29	69					0	0	0.007291	0	0
ANO2	57101	broad.mit.edu	37	12	5941701	5941701	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:5941701C>T	ENST00000327087.8	-	5	761	c.690G>A	c.(688-690)tcG>tcA	p.S230S	ANO2_ENST00000356134.5_Silent_p.S231S|ANO2_ENST00000546188.1_Silent_p.S231S			Q9NQ90	ANO2_HUMAN	anoctamin 2	235						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGTGCGAGCTCAGCT	0.507000													18	101					0	0	0.004990	0	0
HOXB4	3214	broad.mit.edu	37	17	46654222	46654222	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:46654222G>C	ENST00000332503.5	-	2	2409	c.618C>G	c.(616-618)atC>atG	p.I206M	HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACCAGATCTTGATCTGGCGCT	0.607000													62	215					0	0	0.014410	0	0
MOGS	7841	broad.mit.edu	37	2	74688809	74688809	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:74688809C>T	ENST00000233616.4	-	4	2269	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	MOGS_ENST00000452063.2_Missense_Mutation_p.D597N|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	703					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GAGGTGGGGTCCAGCAGTCGC	0.607000													28	72					0	0	0.027356	0	0
MAGI2	9863	broad.mit.edu	37	7	78131057	78131057	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:78131057G>A	ENST00000354212.4	-	5	1055	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P100S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	268	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTGGGAGGGCATCTCCCCT	0.498000													4	94					0	0	0.014758	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526459	97526459	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:97526459G>A	ENST00000305476.5	-	15	2538	c.2406C>T	c.(2404-2406)ctC>ctT	p.L802L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	802					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGGTGCCCGAGCCCTCCCC	0.627000													51	142					0	0	0.014410	0	0
DST	667	broad.mit.edu	37	6	56443679	56443679	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:56443679C>T	ENST00000370754.5	-	50	12866	c.12867G>A	c.(12865-12867)acG>acA	p.T4289T	DST_ENST00000244364.6_Silent_p.T1697T|DST_ENST00000361203.3_Silent_p.T4109T|DST_ENST00000312431.6_Silent_p.T4109T|DST_ENST00000370769.4_Silent_p.T4111T|DST_ENST00000446842.2_Silent_p.T3785T|DST_ENST00000370788.2_Silent_p.T2023T|DST_ENST00000421834.2_Silent_p.T2023T			Q03001	DYST_HUMAN	dystonin	4109					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)			GCACTTCAGCCGTTTTCTTCA	0.413000													7	22					0	0	0.001984	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49368815	49368815	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:49368815G>A	ENST00000263265.6	-	3	692	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A46V	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	46						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCTGAGCGCATTGCCTCT	0.572000													14	53					0	0	0.028581	0	0
KIAA1468	57614	broad.mit.edu	37	18	59888730	59888730	+	Splice_Site	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:59888730G>A	ENST00000256858.6	+	5	1106	c.858_splice	c.e5+1	p.Q286_splice	KIAA1468_ENST00000398130.2_Splice_Site_p.Q286_splice			Q9P260	K1468_HUMAN	KIAA1468	286	LisH.						binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACGATGATCAGGTAAAGTTAC	0.239000													14	51					0	0	0.016723	0	0
OSGIN1	29948	broad.mit.edu	37	16	83983085	83983085	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:83983085C>T	ENST00000343939.2	+	1	414	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	RP11-505K9.4_ENST00000561562.1_RNA|OSGIN1_ENST00000361711.3_5'UTR			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	11					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGGCTGCTGCCGGGGAAATAT	0.582000													42	84					0	0	0.009718	0	0
PPP5C	5536	broad.mit.edu	37	19	46891915	46891915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:46891915G>A	ENST00000012443.4	+	11	1385	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	PPP5C_ENST00000391919.1_Missense_Mutation_p.E300K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	428	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGCAGCCACGAAGTCAAGGC	0.597000													48	160					0	0	0.014410	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451198	22451198	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451198C>G	ENST00000325870.1	+	2	1028	c.803C>G	c.(802-804)tCa>tGa	p.S268*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	268					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCATCTATTTCAGAATACTCC	0.448000													44	77					0	0	0.014410	0	0
MAST3	23031	broad.mit.edu	37	19	18254654	18254654	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:18254654G>A	ENST00000262811.5	+	21	2334	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	778							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATCTCTCCTGAATACCATCA	0.607000													10	26					0	0	0.008291	0	0
LAMB4	22798	broad.mit.edu	37	7	107752256	107752256	+	Splice_Site	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:107752256C>A	ENST00000388781.3	-	4	411	c.328_splice	c.e4+1	p.G110_splice	LAMB4_ENST00000388780.3_Splice_Site_p.G110_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G110_splice|LAMB4_ENST00000414450.2_Splice_Site_p.G110_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	110	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAATCATACCATTTTCAGAT	0.338000													40	89					6.2361e-21	6.91866e-21	0.007835	1	0
RP1L1	94137	broad.mit.edu	37	8	10480315	10480315	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:10480315C>T	ENST00000382483.3	-	2	620	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	133					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGCTGGCCTTCGACATCCCGC	0.607000													36	57					0	0	0.015359	0	0
NRG2	9542	broad.mit.edu	37	5	139422206	139422206	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:139422206C>A	ENST00000541337.1	-	1	678	c.449G>T	c.(448-450)cGa>cTa	p.R150L	NRG2_ENST00000394770.1_Missense_Mutation_p.R150L|NRG2_ENST00000289409.4_Missense_Mutation_p.R150L|NRG2_ENST00000358522.3_Missense_Mutation_p.R150L|NRG2_ENST00000289422.7_Missense_Mutation_p.R150L|NRG2_ENST00000545385.1_Missense_Mutation_p.R150L|NRG2_ENST00000361474.1_Missense_Mutation_p.R150L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	150					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGCTCTCGGGTGCTGTT	0.697000													3	17					2.56e-06	2.65526e-06	0.009096	1	0
OR10H1	26539	broad.mit.edu	37	19	15918182	15918182	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:15918182G>A	ENST00000334920.2	-	1	754	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577000													18	101					0	0	0.017118	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180976	43180976	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:43180976G>A	ENST00000398795.2	+	5	1025	c.657G>A	c.(655-657)gaG>gaA	p.E219E	TNFSF11_ENST00000405262.2_Silent_p.E219E|TNFSF11_ENST00000544862.1_Silent_p.E219E|TNFSF11_ENST00000239849.6_Silent_p.E292E|TNFSF11_ENST00000358545.2_Silent_p.E219E	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	292					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TCAGCATCGAGGTCTCCAACC	0.423000													53	178					0	0	0.014410	0	0
NRDE2	55051	broad.mit.edu	37	14	90770702	90770702	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:90770702G>A	ENST00000354366.3	-	5	814	c.582C>T	c.(580-582)tgC>tgT	p.C194C	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TAATGCCAAGGCAGGAGTCTC	0.418000													23	136					0	0	0.018920	0	0
UNC13C	440279	broad.mit.edu	37	15	54305667	54305667	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:54305667G>C	ENST00000545554.1	+	1	567	c.567G>C	c.(565-567)aaG>aaC	p.K189N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K189N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K189N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	189					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGGAAAAAGAGTCAAGAAT	0.458000													30	90					0	0	0.008361	0	0
CARD14	79092	broad.mit.edu	37	17	78182030	78182030	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:78182030C>T	ENST00000573882.1	+	23	3437	c.2901C>T	c.(2899-2901)taC>taT	p.Y967Y	CARD14_ENST00000344227.2_Silent_p.Y967Y			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	967	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGTCTATACAGCAGCCTGG	0.672000													2	2					0	0	0.009096	0	0
FAM151A	338094	broad.mit.edu	37	1	55089015	55089015	+	Silent	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:55089015G>T	ENST00000302250.2	-	1	214	c.54C>A	c.(52-54)ggC>ggA	p.G18G	RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.G18G|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	18						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACAGGTAATGCCGGCAAACA	0.597000													114	98					4.64626e-59	5.2863e-59	0.014410	1	0
MYH13	8735	broad.mit.edu	37	17	10231210	10231210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231210C>G	ENST00000418404.3	-	21	2827	c.2664G>C	c.(2662-2664)aaG>aaC	p.K888N	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.K888N|MYH13_ENST00000252172.4_Missense_Mutation_p.K888N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	888					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGAGGTCATTCTTCTCCTGCA	0.527000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	75					0	0	0.014323	0	0
PMVK	10654	broad.mit.edu	37	1	154898894	154898894	+	Silent	SNP	C	C	T	rs137902262	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154898894C>T	ENST00000368467.3	-	4	683	c.378G>A	c.(376-378)acG>acA	p.T126T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	126					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGACCGTCTGCGTCACGGCCC	0.617000													19	48					0	0	0.007413	0	0
FBXO6	26270	broad.mit.edu	37	1	11728956	11728956	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:11728956C>T	ENST00000376753.4	+	2	376	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	81	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACTTCCTACGGAGCCT	0.602000													6	91					0	0	0.008291	0	0
TRIM35	23087	broad.mit.edu	37	8	27145246	27145246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:27145246C>T	ENST00000305364.4	-	6	1386	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	435	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCGCCCTCCTCACACTCCAGC	0.682000													5	10					0	0	0.021553	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665758	27665758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:27665758G>T	ENST00000543753.1	+	3	310	c.263G>T	c.(262-264)cGc>cTc	p.R88L	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587000													27	54					7.68411e-24	8.56779e-24	0.008361	1	0
EFNA3	1944	broad.mit.edu	37	1	155057801	155057801	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:155057801G>A	ENST00000368408.3	+	2	433	c.363G>A	c.(361-363)aaG>aaA	p.K121K	EFNA3_ENST00000556931.1_Silent_p.K116K|EFNA3_ENST00000505139.1_Silent_p.K116K|EFNA3_ENST00000418360.2_Silent_p.K121K	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	121					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCCATCAAGTTCTCGGAGA	0.647000													5	21					0	0	0.014758	0	0
TUBB1	81027	broad.mit.edu	37	20	57599074	57599074	+	Missense_Mutation	SNP	G	G	T	rs147034202	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:57599074G>T	ENST00000217133.1	+	4	861	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	198					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAATGCAGATGCCTGTTTCTG	0.527000													5	220					0.014758	0.0149592	0.014758	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803302	142803303	+	RNA	INS	-	-	AAC	rs79529551		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:142803302_142803303insAAC	ENST00000423385.1	-	0	1662_1663																											acaacaacaacaaACAGGATGT	0.386													3	6	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	RNA	DEL	T	T	-	rs111377658		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294													3	2	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220300061	220300061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220300061delC	ENST00000312358.7	+	1	494	c.362delC	c.(361-363)ggfs	p.A121fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	121	Ig-like 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGCGAGGCGGTGCTCACA	0.741													2	4	---	---	---	---					
PFKFB4	5210	broad.mit.edu	37	3	48575989	48575993	+	Frame_Shift_Del	DEL	TGAAG	TGAAG	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:48575989_48575993delTGAAG	ENST00000232375.3	-	7	682_686	c.570_574delCTTCA	c.(568-576)gatgfs	p.DFM190fs	PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.DFM179fs|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.DFM156fs|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	190	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGCGCCTCATGAAGTCCTCCGTAG	0.576													23	85	---	---	---	---					
ARAP2	116984	broad.mit.edu	37	4	36148978	36148979	+	Frame_Shift_Ins	INS	-	-	T	rs148742461	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:36148978_36148979insT	ENST00000303965.4	-	19	3691_3692	c.3202_3203insA	c.(3202-3204)cagfs	p.Q1068fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1068	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTGTGCTGATTGCTGAAGGG	0.332													46	194	---	---	---	---					
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:168317900delT	ENST00000366806.2	+	19	2818	c.2676delT	c.(2674-2676)ccfs	p.P892fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL								7	309	---	---	---	---					
OPLAH	26873	broad.mit.edu	37	8	145114665	145114666	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:145114665_145114666insG	ENST00000426825.1	-	3	280_281	c.199_200insC	c.(199-201)gccfs	p.A67fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	67							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GTCCAGCGGCTGGTCCCGGGGC	0.708													8	37	---	---	---	---					
PPAPDC2	403313	broad.mit.edu	37	9	4662602	4662603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:4662602_4662603insG	ENST00000381883.2	+	1	305_306	c.227_228insG	c.(226-228)gggfs	p.G76fs	SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	76						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTGGCCGCGGCGGGCCCCTCGC	0.752											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	57	---	---	---	---					
SPSB2	84727	broad.mit.edu	37	12	6980443	6980444	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6980443_6980444delCA	ENST00000524270.1	-	3	890_891	c.704_705delTG	c.(703-705)gfs	p.V235fs	SPSB2_ENST00000523102.1_Frame_Shift_Del_p.V235fs	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	235	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTGTGGCGCACACACAGGCG	0.624													11	52	---	---	---	---					
EXOSC8	11340	broad.mit.edu	37	13	37578686	37578686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:37578686delA	ENST00000389704.3	+	5	491	c.226delA	c.(226-228)aafs	p.K76fs	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	76					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGCCCCTGATAAAGGATACGT	0.289													9	144	---	---	---	---					
ADCY7	113	broad.mit.edu	37	16	50340985	50340986	+	Frame_Shift_Ins	INS	-	-	C	rs74793314		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:50340985_50340986insC	ENST00000394697.2	+	15	2117_2118	c.1777_1778insC	c.(1777-1779)ccgfs	p.P593fs	ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	593					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CATCCCCCGGGCCCGCCACGAC	0.658													8	40	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													32	48	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627677	21627678	+	In_Frame_Ins	INS	-	-	GAG			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:21627677_21627678insGAG	ENST00000425654.2	+	19	3024_3025	c.2544_2545insGAG	c.(2542-2547)gaagga>gaGAGagga	p.848_849EG>ERG	CNKSR2_ENST00000379510.3_In_Frame_Ins_p.878_879EG>ERG|CNKSR2_ENST00000543067.1_In_Frame_Ins_p.829_830EG>ERG|CNKSR2_ENST00000279451.4_In_Frame_Ins_p.878_879EG>ERG	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	878					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						aggtggaggaagaggaggagga	0.515													12	28	---	---	---	---					
