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
SLC7A6	9057	broad.mit.edu	37	16	68324421	68324421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr16:68324421G>T	ENST00000566454.1	+	6	1041	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	SLC7A6_ENST00000219343.6_Nonsense_Mutation_p.E258*	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	258					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TTTTGTAACAGAAGAAATCAA	0.512000													30	78					1.04352e-10	1.1328e-10	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795843	109795843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:109795843C>T	ENST00000271332.3	+	1	3203	c.3142C>T	c.(3142-3144)Cga>Tga	p.R1048*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1048	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCATTGGCCGAGTACCTGC	0.532000													14	135					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267661	31267661	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:31267661G>A	ENST00000265071.2	+	2	346	c.81G>A	c.(79-81)agG>agA	p.R27R	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	27					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TATCAAAGAGGACTAGTGGTT	0.502000													22	236					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804238	125804238	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:125804238G>A	ENST00000346248.5	-	3	1386	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CHST15_ENST00000435907.1_Silent_p.F248F|CHST15_ENST00000421115.1_Silent_p.F248F	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	248					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGCGCAGGCGGAAGTGCTTCC	0.647000													33	10					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562884	140562884	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:140562884G>T	ENST00000361016.2	+	1	1905	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		250	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAAGTGCAGATTCCAGAGA	0.522000													9	94					0.0581538	0.0587324	1	1	0
DIP2C	22982	broad.mit.edu	37	10	375376	375376	+	Silent	SNP	G	G	C	rs146315869		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:375376G>C	ENST00000280886.6	-	30	3837	c.3750C>G	c.(3748-3750)ctC>ctG	p.L1250L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1250						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCTTACCTTGAGGGACTCTG	0.552000													12	54					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468282	164468282	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:164468282C>G	ENST00000333129.3	-	3	374	c.60G>C	c.(58-60)caG>caC	p.Q20H	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	20						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTTCTGGCCACTGGGCATGCT	0.483000													85	23					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42249548	42249548	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr20:42249548G>A	ENST00000373030.3	+	9	881	c.751G>A	c.(751-753)Gat>Aat	p.D251N	IFT52_ENST00000373039.4_Missense_Mutation_p.D251N	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	251						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAACCAGATTGATGCTGAGGA	0.368000													13	158					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905635	144905635	+	Silent	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:144905635T>C	ENST00000370490.1	+	1	5947	c.1692T>C	c.(1690-1692)caT>caC	p.H564H	SLITRK2_ENST00000428560.2_Silent_p.H564H|SLITRK2_ENST00000447897.2_Silent_p.H564H|SLITRK2_ENST00000434188.2_Silent_p.H564H|SLITRK2_ENST00000413937.2_Silent_p.H564H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	564	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTAAGCATGCAGGGGAGA	0.478000													54	46					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186325563	186325563	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:186325563G>A	ENST00000367478.4	-	15	2039	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTCAAGTTTGAGCTGAAGCT	0.413000			T	NTRK1	papillary thyroid								9	12					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058041	79058041	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr15:79058041G>T	ENST00000388820.4	-	19	4422	c.4212C>A	c.(4210-4212)ccC>ccA	p.P1404P		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1404					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACGGGTCCGCGGGGGGCCCCG	0.687000													39	49					2.40579e-17	2.72836e-17	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76728577	76728577	+	Splice_Site	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:76728577T>C	ENST00000369963.3	-	7	3093		c.e7-2		IMPG1_ENST00000369950.3_Splice_Site			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1						visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCTCTTTCCTGAGTTTAAAA	0.398000													10	20					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77240888	77240888	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr15:77240888G>A	ENST00000394885.3	+	6	1019	c.796G>A	c.(796-798)Gag>Aag	p.E266K	RCN2_ENST00000394883.3_Missense_Mutation_p.E165K|RCN2_ENST00000320963.5_Missense_Mutation_p.E284K	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	266	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CATTGCACAAGAGGAGGTAAG	0.433000													26	48					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596052	153596052	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:153596052C>T	ENST00000422373.1	-	4	925	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	FLNA_ENST00000360319.4_Missense_Mutation_p.R226Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R226Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R226Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	226	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.R226Q(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGCCTCTCGCGCATTGGT	0.667000													126	96					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													59	23					0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2520386	2520386	+	Silent	SNP	C	C	T	rs143473292		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:2520386C>T	ENST00000444521.2	+	6	607	c.540C>T	c.(538-540)ttC>ttT	p.F180F	FAM213B_ENST00000378424.4_Intron|FAM213B_ENST00000484099.1_Intron|FAM213B_ENST00000378425.5_Silent_p.F162F|FAM213B_ENST00000419916.2_Silent_p.F192F|FAM213B_ENST00000537325.1_Intron	NM_001195736.1	NP_001182665.1	Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	162					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TCCTGCATTTCGTCCAGAAGT	0.642000													7	157					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000508421.1_Silent_p.L146L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269000													10	9					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752557	36752557	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:36752557G>C	ENST00000354618.5	+	4	950	c.726G>C	c.(724-726)ctG>ctC	p.L242L	THRAP3_ENST00000469141.2_Silent_p.L242L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	242	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCTGAGCTGAGTCCTCGGG	0.602000			T	USP6	aneurysmal bone cysts								6	120					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371335	55371335	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr11:55371335A>T	ENST00000302231.4	-	1	539	c.515T>A	c.(514-516)aTt>aAt	p.I172N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATAATGATCAATCAAATAGGG	0.438000													58	11					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52276007	52276007	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:52276007C>T	ENST00000354831.7	-	18	2242	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	NRD1_ENST00000539524.1_Missense_Mutation_p.E553K|NRD1_ENST00000352171.7_Missense_Mutation_p.E617K|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E485K	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	616					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CATTTTCCCTCATTAGCACCA	0.348000													13	37					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961523	34961523	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:34961523C>T	ENST00000329357.5	+	1	611	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	192	Pro-rich.							p.P192L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCGCGGCCTCCCGAGACTCCG	0.652000													23	88					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485898	11485898	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:11485898C>T	ENST00000423059.4	-	13	3105	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACTGAGTCTCAATCAGGGGA	0.378000										HNSCC(18;0.044)			53	182					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10925092	10925092	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:10925092C>G	ENST00000404371.2	-	14	1715	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000381611.4_Missense_Mutation_p.E413Q|PDIA6_ENST00000272227.3_Missense_Mutation_p.E408Q|PDIA6_ENST00000404824.2_Missense_Mutation_p.E456Q|PDIA6_ENST00000540494.1_Missense_Mutation_p.E405Q	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	408					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGCTCTCTCTCAACGATGGTA	0.577000													8	3					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290729	102290729	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:102290729A>T	ENST00000370103.4	-	4	658	c.445T>A	c.(445-447)Tta>Ata	p.L149I	OLFM3_ENST00000536598.1_Missense_Mutation_p.L74I|OLFM3_ENST00000338858.5_Missense_Mutation_p.L169I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.L169I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	169						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGGTGATTAACTTAGCATCT	0.458000													7	29					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230814	1230814	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:1230814C>T	ENST00000381312.1	-	9	2355	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	ADARB2_ENST00000381310.3_Missense_Mutation_p.R186Q|ADARB2_ENST00000381305.1_Missense_Mutation_p.R79Q	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	677	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCATACAGCCGCGCCCACCG	0.657000													14	43					0	0	1	0	0
TMEM50B	757	broad.mit.edu	37	21	34839345	34839345	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr21:34839345C>T	ENST00000542230.2	-	3	398	c.184G>A	c.(184-186)Ggt>Agt	p.G62S		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	62						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GAAAATACACCACATGTGTGA	0.373000													52	11					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874345	4874345	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:4874345C>T	ENST00000399583.3	-	4	1496	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	RADIL_ENST00000538469.1_Missense_Mutation_p.A197T|RADIL_ENST00000536091.1_Missense_Mutation_p.A437T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	437					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGAGGAAGGCGGGGGTCAGC	0.647000													14	15					0	0	1	0	0
ORAI3	93129	broad.mit.edu	37	16	30960706	30960706	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr16:30960706C>T	ENST00000318663.4	+	1	320	c.96C>T	c.(94-96)caC>caT	p.H32H	ORAI3_ENST00000566237.1_Silent_p.H32H|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Silent_p.H32H	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	32						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTTCGTGCACCGCGGCTACC	0.716000													5	11					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39552931	39552931	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:39552931A>G	ENST00000263881.3	-	11	1071	c.747T>C	c.(745-747)ttT>ttC	p.F249F	MAP4K3_ENST00000341681.5_Silent_p.F249F|MAP4K3_ENST00000437545.1_Silent_p.F186F|MAP4K3_ENST00000536018.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	249	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCATTTTCACAAAGTGATGAA	0.254000													53	17					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209532	140209532	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:140209532G>A	ENST00000529310.1	+	1	1970	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCGCTCGCTTCCCGTTT	0.657000													94	37					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107519980	107519980	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:107519980A>G	ENST00000415149.2	+	16	2827	c.2500A>G	c.(2500-2502)Aaa>Gaa	p.K834E	BBX_ENST00000416476.2_Silent_p.L527L|BBX_ENST00000402543.1_Missense_Mutation_p.K814E|BBX_ENST00000406780.1_Missense_Mutation_p.K834E|BBX_ENST00000325805.8_Missense_Mutation_p.K864E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAGTCTCCCTAAAGCAACTGA	0.483000													30	45					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68719190	68719190	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr16:68719190C>T	ENST00000264012.4	+	11	2051	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	CDH3_ENST00000429102.2_Missense_Mutation_p.R503C|CDH3_ENST00000581171.1_Missense_Mutation_p.R448C	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	503	Cadherin 4.		R -> H (in HJMD).		adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCTCGACCGTGAGGATGA	0.572000													23	40					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136016889	136016889	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:136016889C>T	ENST00000471595.1	+	8	877	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	PCCB_ENST00000469217.1_Missense_Mutation_p.P307S|PCCB_ENST00000462637.1_Missense_Mutation_p.P264S|PCCB_ENST00000466072.1_Missense_Mutation_p.P287S|PCCB_ENST00000483687.1_Missense_Mutation_p.P268S|PCCB_ENST00000251654.4_Missense_Mutation_p.P287S|PCCB_ENST00000478469.1_Missense_Mutation_p.P287S|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.P171S|PCCB_ENST00000490504.1_Missense_Mutation_p.P230S|PCCB_ENST00000468777.1_Missense_Mutation_p.P318S			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	287	Carboxyltransferase.		P -> S (in dbSNP:rs2228310).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.P287A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGACCCGGCTCCCGTCCGTGA	0.557000													79	266					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247323097	247323097	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:247323097C>T	ENST00000472531.1	-	2	176	c.49G>A	c.(49-51)Gat>Aat	p.D17N	ZNF124_ENST00000491356.1_Missense_Mutation_p.D17N|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.D17N|ZNF124_ENST00000543802.2_Missense_Mutation_p.D17N	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ACAGCCACATCCTCAAAGGCA	0.433000													23	86					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20853181	20853181	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr14:20853181G>C	ENST00000262715.5	-	21	3110	c.3070C>G	c.(3070-3072)Caa>Gaa	p.Q1024E	TEP1_ENST00000556935.1_Missense_Mutation_p.Q916E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1024					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGAGAGCTTGGGCAGAGGGC	0.602000													23	72					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785230	140785230	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:140785230G>A	ENST00000310546.2	+	2	1028	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	95	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCACGCCCGCGGCCTGCAC	0.716000													5	7					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737860	145737860	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr8:145737860G>C	ENST00000428558.2	-	18	3011	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	990					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACCAGCTTGACCATGTCAA	0.657000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				17	53					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157082228	157082228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:157082228C>G	ENST00000362010.2	-	8	1508	c.1201G>C	c.(1201-1203)Gac>Cac	p.D401H	VEPH1_ENST00000392833.2_Missense_Mutation_p.D401H|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D401H|VEPH1_ENST00000543418.1_Missense_Mutation_p.D401H	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	401						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTCATGGTCTTCATTTTCA	0.378000													30	106					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131936	91131936	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:91131936G>T	ENST00000373094.1	+	2	1542	c.697G>T	c.(697-699)Gct>Tct	p.A233S	PCDH11X_ENST00000504220.2_Missense_Mutation_p.A233S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A233S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A233S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A233S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	233	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTACTGCTATTTTGCA	0.408000													7	268					3.09899e-07	3.31102e-07	1	1	0
HK1	3098	broad.mit.edu	37	10	71139703	71139703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:71139703C>T	ENST00000448642.2	+	14	1611	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	HK1_ENST00000404387.2_Missense_Mutation_p.H377Y|HK1_ENST00000360289.2_Missense_Mutation_p.H361Y|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.H373Y|HK1_ENST00000298649.3_Missense_Mutation_p.H372Y			P19367	HXK1_HUMAN	hexokinase 1	373	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCAGTCCAGCACGTTTGCAC	0.552000													76	43					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191873690	191873690	+	Splice_Site	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:191873690T>A	ENST00000361099.3	-	4	659	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	STAT1_ENST00000392322.3_Splice_Site_p.Q91L|STAT1_ENST00000540176.1_Splice_Site_p.Q91L|STAT1_ENST00000409465.1_Splice_Site_p.Q91L|STAT1_ENST00000392323.2_Splice_Site_p.Q93L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	91					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGGTCATACCTGAAGATTACG	0.368000													28	7					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104863	5104863	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:5104863G>C	ENST00000396912.1	+	5	2295	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	RBAK_ENST00000353796.3_Missense_Mutation_p.E592D|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	592	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACACAGGCGAGAAACCCTATG	0.383000													45	32					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346754	10346754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:10346754G>A	ENST00000255381.2	-	40	5868	c.5758C>T	c.(5758-5760)Caa>Taa	p.Q1920*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1920					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGACTTGGGACTCAGCA	0.468000													59	43					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358000													7	110					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50282164	50282164	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:50282164C>T	ENST00000404971.1	-	21	5196	c.3857G>A	c.(3856-3858)cGc>cAc	p.R1286H	NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1238H|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1246H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1238H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1287H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCGCCAGGCGCTCGTTATC	0.338000													4	6					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483655	137483655	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:137483655G>T	ENST00000306087.1	+	1	77	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	10					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CACATCAAGCGGCCCATGAAC	0.632000													48	111					1.30916e-28	1.49304e-28	1	1	0
TNXB	7148	broad.mit.edu	37	6	32021483	32021483	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:32021483C>T	ENST00000375244.3	-	25	8674	c.8473G>A	c.(8473-8475)Gag>Aag	p.E2825K	TNXB_ENST00000375247.2_Splice_Site			P22105	TENX_HUMAN	tenascin XB	2880	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E2825K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCATCCTCTGGAGCTGGA	0.587000													26	40					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039495	3039495	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:3039495C>G	ENST00000448120.2	+	5	527	c.476C>G	c.(475-477)tCa>tGa	p.S159*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.S159*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	159					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AATTCTGCATCAAGCCAGAAT	0.348000													4	23					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983114	149983114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:149983114C>T	ENST00000543571.1	-	8	3691	c.3144G>A	c.(3142-3144)tgG>tgA	p.W1048*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.W1048*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1048	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TATCATCACTCCATAATTTAT	0.373000													19	45					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878419	5878419	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr11:5878419G>T	ENST00000537935.1	-	1	545	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGGGCAGCCTCAGAAGG	0.512000													77	51					1.12115e-39	1.28584e-39	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47423722	47423722	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:47423722G>C	ENST00000404338.3	+	1	1790	c.1790G>C	c.(1789-1791)aGa>aCa	p.R597T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	597					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACATTGATAGAATCAACTTG	0.443000													72	107					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85036361	85036361	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:85036361C>G	ENST00000370630.5	-	2	268	c.220G>C	c.(220-222)Gat>Cat	p.D74H	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-							lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TGTGACCAATCATAAGATTTC	0.383000													15	58					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073227	134073227	+	Silent	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:134073227C>A	ENST00000264360.5	+	1	2758	c.1932C>A	c.(1930-1932)gtC>gtA	p.V644V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACGCCGAGTCCCGGCCAAGC	0.667000													25	46					2.48779e-11	2.75969e-11	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656298	240656298	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:240656298C>T	ENST00000318160.4	-	2	744	c.478G>A	c.(478-480)Gtg>Atg	p.V160M		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	160	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CTCAGGTTCACGGACATGCAC	0.711000													21	83					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040253	3040253	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:3040253C>T	ENST00000448120.2	+	6	594	c.543C>T	c.(541-543)ctC>ctT	p.L181L	TULP3_ENST00000397132.2_Silent_p.L181L	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	181				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGATAACCTCCTGGGAGACA	0.512000													45	116					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662000													4	70					0	0	1	0	0
RPA2	6118	broad.mit.edu	37	1	28218706	28218706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:28218706C>T	ENST00000373912.3	-	9	1080	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RPA2_ENST00000313433.7_Missense_Mutation_p.D349N|RPA2_ENST00000373909.3_Missense_Mutation_p.D269N	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	261	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				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|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGGTCATCATCCACAGTA	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					37	80					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388097	104388097	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr8:104388097G>A	ENST00000330295.5	+	2	424	c.282G>A	c.(280-282)ctG>ctA	p.L94L	CTHRC1_ENST00000415886.2_Silent_p.L94L|CTHRC1_ENST00000520337.1_Silent_p.L80L	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	94						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGGAATGTCTGAGGGAAAGCT	0.517000													19	71					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149523	42149523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr15:42149523G>A	ENST00000320955.6	-	51	8761	c.8534C>T	c.(8533-8535)gCa>gTa	p.A2845V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2845					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCAGCAGTGCCTCAGCCTG	0.682000													5	7					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935684	166935684	+	Silent	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:166935684A>T	ENST00000061240.2	+	8	1661	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	TLL1_ENST00000513213.1_Silent_p.A338A|TLL1_ENST00000507499.1_Silent_p.A338A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	338	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGATATCGCACAGGCAAGAA	0.458000													52	111					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724975	18724975	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:18724975C>A	ENST00000600490.1	+	4	563	c.378C>A	c.(376-378)agC>agA	p.S126R	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S126R			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	126						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCTGCTGGAGCCAGCCCGCGG	0.672000													3	19					1	1	1	1	0
ARIH2	10425	broad.mit.edu	37	3	49004694	49004694	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:49004694A>C	ENST00000356401.4	+	6	863	c.524A>C	c.(523-525)gAc>gCc	p.D175A	ARIH2_ENST00000449376.1_Missense_Mutation_p.D175A|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	175					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTCGTCAAGGACGGCGTGGGC	0.488000													47	28					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112640	197112640	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:197112640A>G	ENST00000367409.4	-	3	998	c.742T>C	c.(742-744)Tca>Cca	p.S248P	ASPM_ENST00000294732.7_Missense_Mutation_p.S248P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAGATGAGTAGGTAGTA	0.378000													38	87					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76793656	76793656	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:76793656T>G	ENST00000261183.3	-	7	944	c.465A>C	c.(463-465)ttA>ttC	p.L155F	OSBPL8_ENST00000393250.4_Missense_Mutation_p.L113F|OSBPL8_ENST00000393249.2_Missense_Mutation_p.L113F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	155	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CACTGACCTTTAACCAATCAG	0.388000													7	20					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104973	5104973	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:5104973G>A	ENST00000396912.1	+	5	2405	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	RBAK_ENST00000353796.3_Missense_Mutation_p.G629E|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	629	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGTAAATGTGGAAAAGTCTTC	0.383000													48	52					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384977	195384977	+	RNA	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:195384977G>T	ENST00000445430.1	+	0	30																											CGTGTCGGGGGTCCGGGGCCT	0.771000													3	10					0.00024832	0.000257189	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78870024	78870024	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:78870024G>C	ENST00000286627.5	-	8	1990	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	KCNMA1_ENST00000372443.1_Silent_p.L346L|KCNMA1_ENST00000354353.5_Silent_p.L346L|KCNMA1_ENST00000286628.8_Silent_p.L346L|KCNMA1_ENST00000404857.1_Silent_p.L346L|KCNMA1_ENST00000372440.1_Silent_p.L346L|KCNMA1_ENST00000404771.3_Silent_p.L346L|KCNMA1_ENST00000406533.3_Silent_p.L346L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	346					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.L346L(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTGTGACCATGAGTAAATAGA	0.478000													196	72					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826275	42826275	+	Missense_Mutation	SNP	G	G	A	rs143943850		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr20:42826275G>A	ENST00000372970.2	-	6	476	c.296C>T	c.(295-297)gCg>gTg	p.A99V	OSER1_ENST00000255174.2_Missense_Mutation_p.A99V					oxidative stress responsive serine-rich 1																		GGAAGAAGACGCTATTGTACT	0.488000													4	108					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57669696	57669696	+	Splice_Site	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:57669696T>G	ENST00000554048.2	-	4	437	c.438A>C	c.(436-438)caA>caC	p.Q146H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TATCACTCACTTGGACTCTTG	0.468000													10	175					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149524	42149524	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr15:42149524C>G	ENST00000320955.6	-	51	8760	c.8533G>C	c.(8533-8535)Gca>Cca	p.A2845P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2845					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCAGCAGTGCCTCAGCCTGC	0.677000													3	7					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585721	82585721	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:82585721A>T	ENST00000333891.9	-	5	4885	c.4548T>A	c.(4546-4548)agT>agA	p.S1516R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1516R	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTTCACTACTCTCTTCAA	0.408000													23	20					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416085	49416085	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:49416085T>G	ENST00000301067.7	-	52	16389	c.16390A>C	c.(16390-16392)Acg>Ccg	p.T5464P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGGTCAACGTAGCATCAATC	0.498000													10	29					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948771	198948771	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:198948771A>T	ENST00000428675.1	+	2	928	c.530A>T	c.(529-531)aAc>aTc	p.N177I	PLCL1_ENST00000437704.2_Missense_Mutation_p.N79I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	177	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACATTTAGAAACAATGGCCTT	0.458000													11	128					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303786	5303786	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:5303786C>T	ENST00000274181.7	+	20	3231	c.3093C>T	c.(3091-3093)acC>acT	p.T1031T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1031	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGTCTGCACCTCCGAGCCCA	0.652000													21	97					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47101903	47101903	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:47101903G>A	ENST00000377107.2	+	11	1824	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	USP11_ENST00000218348.3_Silent_p.T533T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAAACACACGGGCATCTCGC	0.567000													10	73					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680130	33680130	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:33680130G>A	ENST00000394566.1	-	7	2223	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R651W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	651						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGTTTTCCGGGTCTCTGCT	0.388000													41	80					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596064	228596064	+	Silent	SNP	G	G	A	rs148358732	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:228596064G>A	ENST00000366697.2	-	6	2228	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TRIM17_ENST00000295033.3_Silent_p.F424F|TRIM17_ENST00000366698.2_Silent_p.F424F|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	424	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCCGGCTTCGAAGTCCAGGA	0.597000													38	102					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124375	58124375	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:58124375G>A	ENST00000257897.3	-	12	1408	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	AGAP2_ENST00000547588.1_Silent_p.S777S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	777	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGGGGCTAGGGCTTGGCATGG	0.572000													48	165					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135315010	135315010	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:135315010T>G	ENST00000367837.5	-	8	1175	c.969A>C	c.(967-969)ggA>ggC	p.G323G	HBS1L_ENST00000367824.4_Silent_p.G159G|HBS1L_ENST00000367826.2_Silent_p.G281G|HBS1L_ENST00000445176.2_Silent_p.G47G|HBS1L_ENST00000415177.2_Silent_p.G258G|HBS1L_ENST00000527578.1_Silent_p.G159G	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	323					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCATGGTTACTCCCCTTAAAC	0.323000													19	19					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706396	241706396	+	Silent	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:241706396C>G	ENST00000498729.2	-	19	1866	c.1620G>C	c.(1618-1620)ctG>ctC	p.L540L	KIF1A_ENST00000320389.7_Silent_p.L531L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	531	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGTGCCCACTCAGAACAATGT	0.647000													29	14					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060867	189060867	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:189060867C>A	ENST00000332517.3	+	1	295	c.155C>A	c.(154-156)tCt>tAt	p.S52Y		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	52					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACACCTTTATCTTGTCCTGAG	0.582000													10	204					7.48243e-07	7.91111e-07	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564980	33564980	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr11:33564980C>T	ENST00000321505.4	+	1	1160	c.980C>T	c.(979-981)cCa>cTa	p.P327L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P327L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P327L					KIAA1549-like																		CCTTCAGGACCACCTCTACCT	0.498000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	66					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48687774	48687774	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:48687774G>C	ENST00000338270.1	+	1	492	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	81					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CTACTGGAAGGAGTTGACCCT	0.617000													24	98					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71139652	71139652	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:71139652C>G	ENST00000448642.2	+	14	1560	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	HK1_ENST00000404387.2_Missense_Mutation_p.L360V|HK1_ENST00000360289.2_Missense_Mutation_p.L344V|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.L356V|HK1_ENST00000298649.3_Missense_Mutation_p.L355V			P19367	HXK1_HUMAN	hexokinase 1	356	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CAAAGAAATCCTGACCCGCCT	0.532000													60	28					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540010	169540010	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:169540010C>T	ENST00000340806.6	+	1	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	101										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCCTGGACCTGAGCTACAA	0.592000													60	224					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390396	48390396	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:48390396C>T	ENST00000224600.4	-	1	595	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	161	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G161D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCGGAGGTGCCCATGAGATT	0.627000													44	56					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189573	29189573	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:29189573G>T	ENST00000234961.2	+	3	1139	c.897G>T	c.(895-897)gcG>gcT	p.A299A		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGTGGCTGCGCTGCACCTGT	0.637000													15	17					0.0202918	0.0208042	1	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			39	4					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355378	98355378	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:98355378C>G	ENST00000339364.5	-	17	2493	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E614Q|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E391Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	792	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGGAAGGTCTCCCTGGTCGGA	0.433000													8	73					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385876	46385876	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr18:46385876G>A	ENST00000256413.3	+	12	2038	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	CTIF_ENST00000382998.4_Silent_p.L583L	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	581					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGAACCCTCTGACGCCCCCCA	0.652000													44	83					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	59					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54059203	54059203	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:54059203A>G	ENST00000338662.5	-	5	1574	c.369T>C	c.(367-369)tcT>tcC	p.S123S	ATP5G2_ENST00000550241.1_Intron|ATP5G2_ENST00000602871.1_Silent_p.S107S|ATP5G2_ENST00000549164.1_Silent_p.S107S|ATP5G2_ENST00000394349.3_Silent_p.S164S	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	107					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GTTGCTTCAGAGAAGGGTTCC	0.478000													14	41					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94882606	94882606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr15:94882606G>A	ENST00000357742.4	+	4	725	c.725G>A	c.(724-726)tGg>tAg	p.W242*	MCTP2_ENST00000543482.1_Nonsense_Mutation_p.W242*|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.W242*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	242	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AACCCAGTATGGGATGAGATA	0.353000													33	58					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824694	224824694	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:224824694C>A	ENST00000258383.3	+	2	692	c.623C>A	c.(622-624)cCt>cAt	p.P208H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	208	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCAGTGGACCTGAGAGGACT	0.428000													8	127					5.68852e-11	6.242e-11	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873797	91873797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:91873797C>G	ENST00000373094.1	+	7	4747	c.3902C>G	c.(3901-3903)aCa>aGa	p.T1301R	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1291R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T1264R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T1264R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1293R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1283R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1301					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTAGTGCAACATCTCAGTTT	0.483000													54	296					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384986	195384986	+	RNA	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:195384986C>T	ENST00000445430.1	+	0	39																											GGTCCGGGGCCTGTCGCGGTT	0.781000													4	11					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262801	76262801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:76262801C>A	ENST00000263187.3	+	1	235	c.131C>A	c.(130-132)tCg>tAg	p.S44*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	44					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCCGCCCTTCGGTCCAGGTG	0.672000								Mismatch excision repair (MMR)					15	52					4.7546e-09	5.1068e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090041	9090041	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:9090041C>T	ENST00000397910.4	-	1	1977	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGATTCTCCGATGAGTGTG	0.547000													20	32					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303037	135303037	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:135303037T>G	ENST00000316077.9	-	16	2593	c.2373A>C	c.(2371-2373)ctA>ctC	p.L791L	MAP7D3_ENST00000370663.5_Silent_p.L773L|MAP7D3_ENST00000370661.1_Silent_p.L756L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	791						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TACCATCTTCTAGAAATACCA	0.373000													89	256					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91778977	91778977	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:91778977T>C	ENST00000370425.3	-	30	3418	c.3320A>G	c.(3319-3321)cAa>cGa	p.Q1107R	HFM1_ENST00000294696.5_Missense_Mutation_p.Q339R|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Q786R	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1107							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATTTTCTTTGCATAGTGAT	0.318000													17	40					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068111	190068111	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:190068111G>T	ENST00000367462.3	-	8	1569	c.1338C>A	c.(1336-1338)gcC>gcA	p.A446A	BRINP3_ENST00000534846.1_Silent_p.A344A	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	446																	GGCAGGCAGAGGCGTCTCCCA	0.642000													8	114					0.0381472	0.0387194	1	1	0
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:5104735G>C	ENST00000396912.1	+	5	2167	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	RBAK_ENST00000353796.3_Missense_Mutation_p.E550Q|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E550K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388000													46	42					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71144090	71144090	+	Splice_Site	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:71144090G>A	ENST00000448642.2	+	16	2066	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	HK1_ENST00000404387.2_Splice_Site_p.E528E|HK1_ENST00000360289.2_Splice_Site_p.E512E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Splice_Site_p.E524E|HK1_ENST00000298649.3_Splice_Site_p.E523E			P19367	HXK1_HUMAN	hexokinase 1	524	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCAACAGAGAATGGTGACT	0.478000													86	42					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169775154	169775154	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:169775154C>G	ENST00000286031.6	+	7	1188	c.488C>G	c.(487-489)tCt>tGt	p.S163C	C1orf112_ENST00000413811.2_Missense_Mutation_p.S134C|C1orf112_ENST00000456684.1_Missense_Mutation_p.S221C|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S163C	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	163										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTATTCATTCTTTATTGGAT	0.303000													7	16					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318440	41318440	+	Missense_Mutation	SNP	A	A	T	rs141443364		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr22:41318440A>T	ENST00000357137.4	+	8	1243	c.1159A>T	c.(1159-1161)Atg>Ttg	p.M387L	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.M364L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	387					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CATCTACAGCATGATGCTGAC	0.468000													102	193					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69233624	69233624	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:69233624C>G	ENST00000462284.1	+	11	1791	c.1489C>G	c.(1489-1491)Ccc>Gcc	p.P497A	MDM2_ENST00000517852.1_Missense_Mutation_p.P130A|MDM2_ENST00000428863.2_Missense_Mutation_p.P270A|MDM2_ENST00000356290.4_Missense_Mutation_p.P321A|MDM2_ENST00000393410.1_Missense_Mutation_p.P243A|MDM2_ENST00000360430.2_Missense_Mutation_p.P296A|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.P436A|MDM2_ENST00000393413.3_Missense_Mutation_p.P218A|MDM2_ENST00000299252.4_Missense_Mutation_p.P321A|MDM2_ENST00000540827.1_Missense_Mutation_p.P296A|MDM2_ENST00000393412.3_Missense_Mutation_p.P218A|MDM2_ENST00000258148.7_Missense_Mutation_p.P442A|MDM2_ENST00000350057.5_Missense_Mutation_p.P466A|MDM2_ENST00000348801.2_Missense_Mutation_p.P265A|MDM2_ENST00000478070.1_3'UTR	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	491					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AACTTATTTCCCCTAGTTGAC	0.333000			A		"""sarcoma, glioma, colorectal, other"""								15	22					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075755	145075755	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:145075755C>T	ENST00000369359.4	-	1	146	c.108G>A	c.(106-108)gcG>gcA	p.A36A	PDE4DIP_ENST00000369348.3_Silent_p.A36A|PDE4DIP_ENST00000369345.4_Silent_p.A36A|PDE4DIP_ENST00000530740.1_Silent_p.A36A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGTTCGCGTCGCGTCCCCGG	0.726000			T	PDGFRB	MPD								16	208					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	rs143691874		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCCGGAGCC	0.647000													49	53					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70866582	70866582	+	Silent	SNP	T	T	C	rs112579213		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:70866582T>C	ENST00000246895.4	+	5	216	c.105T>C	c.(103-105)taT>taC	p.Y35Y	STATH_ENST00000381060.2_Silent_p.Y25Y	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	35					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						GTATACAGTATGGGTATGGCC	0.363000													12	87					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194249	60194249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr14:60194249C>A	ENST00000267484.5	-	3	1488	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	385					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCTTGACCTCGGGCCTGTCG	0.652000													5	21					0.0215528	0.021986	1	1	0
IRX1	79192	broad.mit.edu	37	5	3596419	3596419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:3596419C>T	ENST00000302006.3	+	1	252	c.200C>T	c.(199-201)gCg>gTg	p.A67V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TACGCGGCGGCGGGGCCGTAC	0.776000													6	23					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145616824	145616824	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr8:145616824G>A	ENST00000308860.6	+	8	887	c.843G>A	c.(841-843)gaG>gaA	p.E281E	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	281	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCGAGAATGAGGGCCGCAACG	0.672000													5	8					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590825	102590825	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr9:102590825C>G	ENST00000330847.1	+	2	578	c.534C>G	c.(532-534)atC>atG	p.I178M	NR4A3_ENST00000395097.2_Missense_Mutation_p.I167M|NR4A3_ENST00000338488.4_Missense_Mutation_p.I167M			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	167					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCGGCTGCATCGCACCCGGCC	0.746000			T	EWSR1	extraskeletal myxoid chondrosarcoma								11	6					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	19					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507278	64507278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr11:64507278G>A	ENST00000377494.1	-	6	1448	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.Q176*|RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.Q176*|RASGRP2_ENST00000354024.3_Nonsense_Mutation_p.Q176*			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	176	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGATAGTCCTGAAACTGGGGG	0.572000													62	20					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868511	9868511	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:9868511C>A	ENST00000397902.2	-	6	1655	c.1242G>T	c.(1240-1242)agG>agT	p.R414S	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CAGTGTGAATCCTTACATGTT	0.393000													34	49					4.4194e-11	4.87575e-11	1	1	0
IAPP	3375	broad.mit.edu	37	12	21531175	21531175	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:21531175C>G	ENST00000542023.1	+	4	278	c.177C>G	c.(175-177)atC>atG	p.I59M	IAPP_ENST00000539393.1_Missense_Mutation_p.Q29E|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000240652.3_Missense_Mutation_p.Q29E			P10997	IAPP_HUMAN	islet amyloid polypeptide	0					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	TACCAGTCATCAGGTGGAAAA	0.413000													50	45					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212355	183212355	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:183212355C>T	ENST00000264144.4	+	23	3467	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1134	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGACCCAGATCAACAGCCAAC	0.532000													33	68					0	0	1	0	0
TMEM185B	79134	broad.mit.edu	37	2	120980382	120980382	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:120980382G>A	ENST00000426077.2	-	1	602	c.171C>T	c.(169-171)ggC>ggT	p.G57G		NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN	transmembrane protein 185B	57						integral to membrane											CCACGGAGGCGCCTGCGACGA	0.652000													2	1					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584477	1584477	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:1584477G>C	ENST00000381297.4	-	2	1185	c.975C>G	c.(973-975)ctC>ctG	p.L325L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	325						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCGGAGAAGAGGCTCTCGC	0.667000			T	CRLF2	"""B-ALL, Downs associated ALL"""								104	74					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138163	203138163	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:203138163C>T	ENST00000255416.4	-	9	1345	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	430	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCAGAGAGGGCGCGGTATTTG	0.562000													10	194					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761295	27761295	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr16:27761295C>T	ENST00000261588.4	+	16	3033	c.3014C>T	c.(3013-3015)cCg>cTg	p.P1005L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1005										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAGGGTGAACCGGTGCAGATT	0.502000													14	30					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482195	39482195	+	RNA	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:39482195G>A	ENST00000513652.1	+	0	321																											GCCTACGCCCGTGAAGCCAAA	0.577000													39	71					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888717	63888717	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr14:63888717G>C	ENST00000337537.3	-	4	1052	c.450C>G	c.(448-450)caC>caG	p.H150Q	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.H150Q|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.H74Q|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	150					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTACCTGTAAGTGTGGCCACG	0.383000													15	61					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	48					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163136595	163136595	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:163136595T>C	ENST00000263642.2	-	8	1947	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	518					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACAGTTTTAATAGTAAATGCA	0.338000													38	14					0	0	1	0	0
ZFP92	139735	broad.mit.edu	37	X	152686420	152686420	+	Silent	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:152686420C>A	ENST00000338647.5	+	4	586	c.585C>A	c.(583-585)ctC>ctA	p.L195L		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(4)	6						GCTTCGCGCTCCTGGAGCACC	0.642000													13	9					5.50884e-06	5.7644e-06	1	1	0
TNN	63923	broad.mit.edu	37	1	175086321	175086321	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:175086321C>T	ENST00000239462.4	+	10	2479	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	789	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAAGAAGGCTGACACCAAG	0.547000													69	61					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058768	113058768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:113058768G>A	ENST00000369686.5	+	4	457	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	WNT2B_ENST00000256640.5_Missense_Mutation_p.R45Q|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369684.4_Missense_Mutation_p.R137Q	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGGTAGCCGAGAGGCAGCT	0.532000													77	55					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226580641	226580641	+	Nonstop_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:226580641C>A	ENST00000366792.1	-	3	472	c.327G>T	c.(325-327)taG>taT	p.*109Y	PARP1_ENST00000366791.5_Nonstop_Mutation_p.*109Y|PARP1_ENST00000366794.5_Intron			P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	0					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		taagacgaagctatcttccca	0.353000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	15					7.01153e-11	7.65237e-11	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237374293	237374293	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:237374293G>A	ENST00000409907.3	-	6	1055	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	IQCA1_ENST00000309507.5_Missense_Mutation_p.R257C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R261C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	261							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCGCAGGCGGTCCACCTTT	0.433000													28	9					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278283	114278283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:114278283G>C	ENST00000357077.4	+	38	8562	c.8509G>C	c.(8509-8511)Gca>Cca	p.A2837P	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2804P|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2804					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTCCACAAGCAGATTGCCC	0.413000													40	87					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:26822398G>C	ENST00000376236.4	+	9	1299	c.844G>C	c.(844-846)Gaa>Caa	p.E282Q		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000													16	8					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64414652	64414652	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:64414652G>A	ENST00000395251.1	+	3	422	c.88G>A	c.(88-90)Gga>Aga	p.G30R	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	30										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ttgcctgcacggagcttacct	0.418000													77	31					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457709	64457709	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr14:64457709C>T	ENST00000358025.3	+	21	2752	c.2522C>T	c.(2521-2523)tCa>tTa	p.S841L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S841L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S841L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	841					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTGACGTTTCACCAGATTTG	0.408000													23	50					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218699820	218699820	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:218699820T>A	ENST00000171887.4	-	19	3351	c.2899A>T	c.(2899-2901)Agt>Tgt	p.S967C	TNS1_ENST00000419504.1_Missense_Mutation_p.S967C|TNS1_ENST00000430930.1_Missense_Mutation_p.S967C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	967						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTACCCCCACTGGGTGGTGGG	0.617000													74	20					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430589	116430589	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr8:116430589T>A	ENST00000395715.3	-	6	3369	c.2792A>T	c.(2791-2793)aAc>aTc	p.N931I	TRPS1_ENST00000220888.5_Missense_Mutation_p.N918I|TRPS1_ENST00000520276.1_Missense_Mutation_p.N922I|TRPS1_ENST00000519076.1_Missense_Mutation_p.N672I	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	918					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCACACGCGTTGCATACATA	0.483000									Langer-Giedion syndrome				106	79					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149893662	149893662	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:149893662A>G	ENST00000367419.5	+	3	321	c.200A>G	c.(199-201)tAt>tGt	p.Y67C		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		AACATAACCTATGAGAGTGGA	0.303000													16	41					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694697	141694697	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:141694697C>T	ENST00000344120.4	-	3	232	c.46G>A	c.(46-48)Gta>Ata	p.V16I	SPRY4_ENST00000434127.2_5'UTR|SPRY4_ENST00000503582.1_5'UTR	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	0					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACTGTACGGAGAAACAG	0.612000									Testicular Cancer, Familial Clustering of				12	21					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934410	113934410	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr11:113934410G>A	ENST00000335953.4	+	2	768	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D130N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	130					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGCCTCAGACGACAATGACAC	0.587000													20	12					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63481823	63481823	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr18:63481823C>T	ENST00000536984.2	+	4	1302	c.608C>T	c.(607-609)tCa>tTa	p.S203L	CDH7_ENST00000397968.2_Missense_Mutation_p.S203L|CDH7_ENST00000323011.3_Missense_Mutation_p.S203L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	203	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCGTACTTCTCAGTGGAGCCA	0.398000													31	80					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325931	70325931	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chrX:70325931G>A	ENST00000374251.5	-	3	217	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65											breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GCATGATTGGGCTTCATCAGG	0.488000													12	99					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915882	126915882	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:126915882G>T	ENST00000398112.1	+	2	594	c.354G>T	c.(352-354)ccG>ccT	p.P118P		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TAGGAAGTCCGTATCTGGCTG	0.597000													130	394					1.50598e-64	1.73701e-64	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	125					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224921	248224921	+	Splice_Site	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:248224921A>G	ENST00000359959.3	+	1	938	c.938A>G	c.(937-939)tAg>tGg	p.*313W	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGAAAATGTAGAAACATTTT	0.433000													38	32					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961599	69961599	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:69961599G>A	ENST00000358913.5	+	18	3995	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	MYPN_ENST00000540630.1_Silent_p.K1169K|MYPN_ENST00000354393.2_Silent_p.K894K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1169	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAGGTGAAGAAAGCACCTG	0.507000													7	97					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404887	91404887	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:91404887G>A	ENST00000370440.1	-	3	2241	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S675L			Q9H582	ZN644_HUMAN	zinc finger protein 644	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATGAATTTTTGAAAAACTACT	0.373000													34	81					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388110	104388110	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr8:104388110G>C	ENST00000330295.5	+	2	437	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	CTHRC1_ENST00000415886.2_Missense_Mutation_p.E99Q|CTHRC1_ENST00000520337.1_Missense_Mutation_p.E85Q	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	99						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGAAAGCTTTGAGGAGTCCTG	0.473000													14	53					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878070	76878070	+	Silent	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:76878070T>C	ENST00000328299.3	+	3	739	c.591T>C	c.(589-591)gaT>gaC	p.D197D	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	197					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTTACTGTGATGGAGTTTTTA	0.403000													30	44					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	886120	886120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:886120C>A	ENST00000312090.6	-	5	679	c.529G>T	c.(529-531)Gag>Tag	p.E177*	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Nonsense_Mutation_p.E177*|MED16_ENST00000325464.1_Nonsense_Mutation_p.E177*|MED16_ENST00000269814.4_Nonsense_Mutation_p.E177*|MED16_ENST00000395808.3_Nonsense_Mutation_p.E177*			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	177					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCAGCCCTCCATGGGCTTG	0.677000													17	25					1.45105e-14	1.63646e-14	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	55996293	55996293	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr18:55996293C>T	ENST00000456986.1	+	10	984	c.384C>T	c.(382-384)ttC>ttT	p.F128F	NEDD4L_ENST00000435432.2_Silent_p.F128F|NEDD4L_ENST00000256832.7_Silent_p.F128F|NEDD4L_ENST00000456173.2_Silent_p.F128F|NEDD4L_ENST00000356462.6_Silent_p.F249F|NEDD4L_ENST00000357895.5_Silent_p.F241F|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Silent_p.F128F|NEDD4L_ENST00000256830.9_Silent_p.F249F|NEDD4L_ENST00000382850.4_Silent_p.F249F|NEDD4L_ENST00000586263.1_Silent_p.F241F|NEDD4L_ENST00000400345.3_Silent_p.F249F	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	249					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACCGGCGCTTCCGCTCCCGCA	0.612000													21	41					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573059	64573059	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr10:64573059C>T	ENST00000242480.3	-	2	1664	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	EGR2_ENST00000439032.1_Missense_Mutation_p.V447M|EGR2_ENST00000411732.1_Missense_Mutation_p.V397M	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	447					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAGGCTGCACGCCCCCAGAG	0.642000													74	24					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830810	46830810	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:46830810G>T	ENST00000283296.7	-	15	2302	c.2014C>A	c.(2014-2016)Ccc>Acc	p.P672T	GPR116_ENST00000545669.1_Missense_Mutation_p.P101T|GPR116_ENST00000265417.7_Missense_Mutation_p.P672T|GPR116_ENST00000456426.2_Missense_Mutation_p.P530T|GPR116_ENST00000362015.4_Missense_Mutation_p.P672T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	672					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTATTACGGGATCCTGGCAT	0.493000													16	33					3.52763e-06	3.71041e-06	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327797	88327797	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr13:88327797T>A	ENST00000325089.6	+	2	373	c.154T>A	c.(154-156)Tgt>Agt	p.C52S	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	52						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGACAATGCATGTCCTTGTGA	0.473000													42	101					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104695	5104695	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:5104695G>C	ENST00000396912.1	+	5	2127	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	RBAK_ENST00000353796.3_Missense_Mutation_p.E536D|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	536	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CAAAAGGGGAGAAATCCTATG	0.373000													59	60					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189381	167189381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:167189381G>A	ENST00000476257.1	-	3	540	c.242C>T	c.(241-243)tCa>tTa	p.S81L	SERPINI2_ENST00000461846.1_Missense_Mutation_p.S81L|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S81L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S81L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	81					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTCACCAGCTGAGGTTTCCTG	0.363000													58	123					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402893	126402893	+	Splice_Site	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr4:126402893G>T	ENST00000394329.3	+	15	12829	c.12816G>T	c.(12814-12816)aaG>aaT	p.K4272N	FAT4_ENST00000335110.5_Splice_Site_p.K2513N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4272	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTACTGTGAAGGTGAGATAAA	0.408000													12	21					4.3838e-07	4.65922e-07	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42526165	42526165	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:42526165G>A	ENST00000262895.3	-	13	1630	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	GRIK5_ENST00000593562.1_Missense_Mutation_p.P544L|GRIK5_ENST00000301218.4_Missense_Mutation_p.P544L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	544						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCACACAGCAGGGGAGAAGGG	0.632000													15	16					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31592245	31592245	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr14:31592245C>A	ENST00000399332.1	-	27	5478	c.4990G>T	c.(4990-4992)Gat>Tat	p.D1664Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D1664Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1664					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CGGCAGCTATCAAGGAAATCT	0.378000													19	53					7.45023e-12	8.30987e-12	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262642	45262642	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:45262642G>T	ENST00000303230.4	-	8	2111	c.2054C>A	c.(2053-2055)aCa>aAa	p.T685K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	685						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGGGTCTGTGTGCTGGGACT	0.627000													37	90					6.90743e-12	7.747e-12	1	1	0
PARD6A	50855	broad.mit.edu	37	16	67696156	67696156	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr16:67696156T>C	ENST00000458121.2	+	3	735	c.644T>C	c.(643-645)cTc>cCc	p.L215P	PARD6A_ENST00000602551.1_Missense_Mutation_p.L186P|PARD6A_ENST00000219255.3_Missense_Mutation_p.L216P	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	216	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GATGAGATCCTCGAGGTCAAT	0.587000													11	108					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317933	46317933	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:46317933T>G	ENST00000221538.3	-	1	644	c.502A>C	c.(502-504)Agg>Cgg	p.R168R	RSPH6A_ENST00000597055.1_Silent_p.R168R	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	168						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGGTCATCCCTTATGTAAGGC	0.617000													34	62					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515344	54515344	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:54515344C>T	ENST00000252729.2	+	4	1274	c.684C>T	c.(682-684)ggC>ggT	p.G228G	CACNG6_ENST00000352529.1_Silent_p.G157G|CACNG6_ENST00000346968.2_Silent_p.G182G	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	228						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TGGGGGCCGGCCTGATCCTGC	0.716000													41	79					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734728	110734728	+	Silent	SNP	C	C	T	rs140501605		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:110734728C>T	ENST00000331565.4	+	7	1484	c.999C>T	c.(997-999)gcC>gcT	p.A333A		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	333					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTTCGATGCCGCCCTGGTGT	0.537000													29	86					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464878	33464878	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:33464878C>A	ENST00000442241.4	-	5	531	c.492G>T	c.(490-492)tgG>tgT	p.W164C	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Intron|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	164						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CATCTGGAGACCAGGATATAC	0.532000													5	91					3.59834e-05	3.74596e-05	1	1	0
PLOD3	8985	broad.mit.edu	37	7	100859192	100859192	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:100859192C>T	ENST00000223127.3	-	5	1010	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	204					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTACCCTCAGTCCTGGGT	0.582000													19	56					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936965	15936965	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr5:15936965C>T	ENST00000504595.1	+	4	1627	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	FBXL7_ENST00000510662.1_Silent_p.N335N|FBXL7_ENST00000329673.7_Silent_p.N370N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	382					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTCAACGCGAGGGGCT	0.617000													15	73					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420408	49420408	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:49420408T>C	ENST00000301067.7	-	48	15340	c.15341A>G	c.(15340-15342)cAt>cGt	p.H5114R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACAAGCAAAATGGTAGACATT	0.557000													71	73					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86952415	86952415	+	Silent	SNP	C	C	T	rs111337245		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr1:86952415C>T	ENST00000234701.3	+	8	1512	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	CLCA1_ENST00000394711.1_Silent_p.S387S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	387	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCATCTGCAGCGGGCTTCGAT	0.428000													74	84					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													7	251					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19384101	19384101	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr3:19384101A>G	ENST00000328405.2	+	4	731	c.465A>G	c.(463-465)agA>agG	p.R155R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	155						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAAGATCAAGAGCAGGGACCC	0.428000													23	23					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74655448	74655448	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr2:74655448G>A	ENST00000305557.5	-	10	1579	c.994C>T	c.(994-996)Cct>Tct	p.P332S	RTKN_ENST00000233330.6_Missense_Mutation_p.P295S|RTKN_ENST00000272430.5_Missense_Mutation_p.P345S	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	345	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCATCCTCAGGTTGCCGGTAA	0.527000													66	72					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													7	84					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325931	70325931	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:70325931G>A	ENST00000374251.5	-	3	217	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65											breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GCATGATTGGGCTTCATCAGG	0.488000													12	99					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68324421	68324421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:68324421G>T	ENST00000566454.1	+	6	1041	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	SLC7A6_ENST00000219343.6_Nonsense_Mutation_p.E258*	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	258					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TTTTGTAACAGAAGAAATCAA	0.512000													30	78					1.04352e-10	1.12722e-10	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795843	109795843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:109795843C>T	ENST00000271332.3	+	1	3203	c.3142C>T	c.(3142-3144)Cga>Tga	p.R1048*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1048	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCATTGGCCGAGTACCTGC	0.532000													14	135					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267661	31267661	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:31267661G>A	ENST00000265071.2	+	2	346	c.81G>A	c.(79-81)agG>agA	p.R27R	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	27					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TATCAAAGAGGACTAGTGGTT	0.502000													22	236					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804238	125804238	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:125804238G>A	ENST00000346248.5	-	3	1386	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CHST15_ENST00000435907.1_Silent_p.F248F|CHST15_ENST00000421115.1_Silent_p.F248F	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	248					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGCGCAGGCGGAAGTGCTTCC	0.647000													33	10					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562884	140562884	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:140562884G>T	ENST00000361016.2	+	1	1905	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		250	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAAGTGCAGATTCCAGAGA	0.522000													9	94					0.0581538	0.0584431	1	1	0
FIGN	55137	broad.mit.edu	37	2	164468282	164468282	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:164468282C>G	ENST00000333129.3	-	3	374	c.60G>C	c.(58-60)caG>caC	p.Q20H	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	20						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTTCTGGCCACTGGGCATGCT	0.483000													85	23					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42249548	42249548	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr20:42249548G>A	ENST00000373030.3	+	9	881	c.751G>A	c.(751-753)Gat>Aat	p.D251N	IFT52_ENST00000373039.4_Missense_Mutation_p.D251N	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	251						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAACCAGATTGATGCTGAGGA	0.368000													13	158					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905635	144905635	+	Silent	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:144905635T>C	ENST00000370490.1	+	1	5947	c.1692T>C	c.(1690-1692)caT>caC	p.H564H	SLITRK2_ENST00000434188.2_Silent_p.H564H|SLITRK2_ENST00000428560.2_Silent_p.H564H|SLITRK2_ENST00000447897.2_Silent_p.H564H|SLITRK2_ENST00000413937.2_Silent_p.H564H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	564	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTAAGCATGCAGGGGAGA	0.478000													54	46					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186325563	186325563	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:186325563G>A	ENST00000367478.4	-	15	2039	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTCAAGTTTGAGCTGAAGCT	0.413000			T	NTRK1	papillary thyroid								9	12					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058041	79058041	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr15:79058041G>T	ENST00000388820.4	-	19	4422	c.4212C>A	c.(4210-4212)ccC>ccA	p.P1404P		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1404					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACGGGTCCGCGGGGGGCCCCG	0.687000													39	49					2.40579e-17	2.71492e-17	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76728577	76728577	+	Splice_Site	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:76728577T>C	ENST00000369963.3	-	7	3093		c.e7-2		IMPG1_ENST00000369950.3_Splice_Site			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1						visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCTCTTTCCTGAGTTTAAAA	0.398000													10	20					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77240888	77240888	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr15:77240888G>A	ENST00000394885.3	+	6	1019	c.796G>A	c.(796-798)Gag>Aag	p.E266K	RCN2_ENST00000394883.3_Missense_Mutation_p.E165K|RCN2_ENST00000320963.5_Missense_Mutation_p.E284K	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	266	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CATTGCACAAGAGGAGGTAAG	0.433000													26	48					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596052	153596052	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:153596052C>T	ENST00000422373.1	-	4	925	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	FLNA_ENST00000344736.4_Missense_Mutation_p.R226Q|FLNA_ENST00000360319.4_Missense_Mutation_p.R226Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R226Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	226	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.R226Q(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGCCTCTCGCGCATTGGT	0.667000													126	96					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													59	23					0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2520386	2520386	+	Silent	SNP	C	C	T	rs143473292		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:2520386C>T	ENST00000444521.2	+	6	607	c.540C>T	c.(538-540)ttC>ttT	p.F180F	FAM213B_ENST00000378424.4_Intron|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000484099.1_Intron|FAM213B_ENST00000378425.5_Silent_p.F162F|FAM213B_ENST00000419916.2_Silent_p.F192F	NM_001195736.1	NP_001182665.1	Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	162					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TCCTGCATTTCGTCCAGAAGT	0.642000													7	157					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269000													10	9					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752557	36752557	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:36752557G>C	ENST00000354618.5	+	4	950	c.726G>C	c.(724-726)ctG>ctC	p.L242L	THRAP3_ENST00000469141.2_Silent_p.L242L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	242	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCTGAGCTGAGTCCTCGGG	0.602000			T	USP6	aneurysmal bone cysts								6	120					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371335	55371335	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:55371335A>T	ENST00000302231.4	-	1	539	c.515T>A	c.(514-516)aTt>aAt	p.I172N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATAATGATCAATCAAATAGGG	0.438000													58	11					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52276007	52276007	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:52276007C>T	ENST00000354831.7	-	18	2242	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E617K|NRD1_ENST00000544028.1_Missense_Mutation_p.E485K|NRD1_ENST00000539524.1_Missense_Mutation_p.E553K	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	616					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CATTTTCCCTCATTAGCACCA	0.348000													13	37					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961523	34961523	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:34961523C>T	ENST00000329357.5	+	1	611	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	192	Pro-rich.							p.P192L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCGCGGCCTCCCGAGACTCCG	0.652000													23	88					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034146	17034146	+	RNA	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:17034146C>T	ENST00000492551.1	-	0	457					NR_026567.1																						CTTGCTGTGGCCGCGGCTCGC	0.721000													3	11					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485898	11485898	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:11485898C>T	ENST00000423059.4	-	13	3105	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACTGAGTCTCAATCAGGGGA	0.378000										HNSCC(18;0.044)			53	182					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10925092	10925092	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:10925092C>G	ENST00000404371.2	-	14	1715	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	PDIA6_ENST00000272227.3_Missense_Mutation_p.E408Q|PDIA6_ENST00000540494.1_Missense_Mutation_p.E405Q|PDIA6_ENST00000404824.2_Missense_Mutation_p.E456Q|PDIA6_ENST00000381611.4_Missense_Mutation_p.E413Q|ATP6V1C2_ENST00000381661.3_3'UTR	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	408					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGCTCTCTCTCAACGATGGTA	0.577000													8	3					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290729	102290729	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:102290729A>T	ENST00000370103.4	-	4	658	c.445T>A	c.(445-447)Tta>Ata	p.L149I	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.L169I|OLFM3_ENST00000536598.1_Missense_Mutation_p.L74I|OLFM3_ENST00000338858.5_Missense_Mutation_p.L169I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	169						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGGTGATTAACTTAGCATCT	0.458000													7	29					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230814	1230814	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:1230814C>T	ENST00000381312.1	-	9	2355	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	ADARB2_ENST00000381305.1_Missense_Mutation_p.R79Q|ADARB2_ENST00000381310.3_Missense_Mutation_p.R186Q	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	677	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCATACAGCCGCGCCCACCG	0.657000													14	43					0	0	1	0	0
TMEM50B	757	broad.mit.edu	37	21	34839345	34839345	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr21:34839345C>T	ENST00000542230.2	-	3	398	c.184G>A	c.(184-186)Ggt>Agt	p.G62S		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	62						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GAAAATACACCACATGTGTGA	0.373000													52	11					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874345	4874345	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:4874345C>T	ENST00000399583.3	-	4	1496	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	RADIL_ENST00000538469.1_Missense_Mutation_p.A197T|RADIL_ENST00000536091.1_Missense_Mutation_p.A437T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	437					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGAGGAAGGCGGGGGTCAGC	0.647000													14	15					0	0	1	0	0
ORAI3	93129	broad.mit.edu	37	16	30960706	30960706	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:30960706C>T	ENST00000318663.4	+	1	320	c.96C>T	c.(94-96)caC>caT	p.H32H	ORAI3_ENST00000562699.1_Silent_p.H32H|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Silent_p.H32H	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	32						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTTCGTGCACCGCGGCTACC	0.716000													5	11					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39552931	39552931	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:39552931A>G	ENST00000263881.3	-	11	1071	c.747T>C	c.(745-747)ttT>ttC	p.F249F	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Silent_p.F186F|MAP4K3_ENST00000341681.5_Silent_p.F249F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	249	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCATTTTCACAAAGTGATGAA	0.254000													53	17					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209532	140209532	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:140209532G>A	ENST00000529310.1	+	1	1970	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCGCTCGCTTCCCGTTT	0.657000													94	37					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107519980	107519980	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:107519980A>G	ENST00000415149.2	+	16	2827	c.2500A>G	c.(2500-2502)Aaa>Gaa	p.K834E	BBX_ENST00000402543.1_Missense_Mutation_p.K814E|BBX_ENST00000406780.1_Missense_Mutation_p.K834E|BBX_ENST00000325805.8_Missense_Mutation_p.K864E|BBX_ENST00000416476.2_Silent_p.L527L	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAGTCTCCCTAAAGCAACTGA	0.483000													30	45					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68719190	68719190	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:68719190C>T	ENST00000264012.4	+	11	2051	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	CDH3_ENST00000429102.2_Missense_Mutation_p.R503C|CDH3_ENST00000581171.1_Missense_Mutation_p.R448C	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	503	Cadherin 4.		R -> H (in HJMD).		adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCTCGACCGTGAGGATGA	0.572000													23	40					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136016889	136016889	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:136016889C>T	ENST00000471595.1	+	8	877	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	PCCB_ENST00000251654.4_Missense_Mutation_p.P287S|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.P171S|PCCB_ENST00000466072.1_Missense_Mutation_p.P287S|PCCB_ENST00000490504.1_Missense_Mutation_p.P230S|PCCB_ENST00000469217.1_Missense_Mutation_p.P307S|PCCB_ENST00000478469.1_Missense_Mutation_p.P287S|PCCB_ENST00000462637.1_Missense_Mutation_p.P264S|PCCB_ENST00000468777.1_Missense_Mutation_p.P318S|PCCB_ENST00000483687.1_Missense_Mutation_p.P268S			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	287	Carboxyltransferase.		P -> S (in dbSNP:rs2228310).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.P287A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGACCCGGCTCCCGTCCGTGA	0.557000													79	266					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247323097	247323097	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:247323097C>T	ENST00000472531.1	-	2	176	c.49G>A	c.(49-51)Gat>Aat	p.D17N	ZNF124_ENST00000543802.2_Missense_Mutation_p.D17N|ZNF124_ENST00000491356.1_Missense_Mutation_p.D17N|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.D17N	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ACAGCCACATCCTCAAAGGCA	0.433000													23	86					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20853181	20853181	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr14:20853181G>C	ENST00000262715.5	-	21	3110	c.3070C>G	c.(3070-3072)Caa>Gaa	p.Q1024E	TEP1_ENST00000556935.1_Missense_Mutation_p.Q916E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1024					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGAGAGCTTGGGCAGAGGGC	0.602000													23	72					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483655	137483655	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:137483655G>T	ENST00000306087.1	+	1	77	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	10					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CACATCAAGCGGCCCATGAAC	0.632000													48	111					1.30916e-28	1.48568e-28	1	1	0
RECQL4	9401	broad.mit.edu	37	8	145737860	145737860	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr8:145737860G>C	ENST00000428558.2	-	18	3011	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	990					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACCAGCTTGACCATGTCAA	0.657000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				17	53					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157082228	157082228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:157082228C>G	ENST00000362010.2	-	8	1508	c.1201G>C	c.(1201-1203)Gac>Cac	p.D401H	VEPH1_ENST00000543418.1_Missense_Mutation_p.D401H|VEPH1_ENST00000392833.2_Missense_Mutation_p.D401H|VEPH1_ENST00000392832.2_Missense_Mutation_p.D401H|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	401						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTCATGGTCTTCATTTTCA	0.378000													30	106					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131936	91131936	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:91131936G>T	ENST00000373094.1	+	2	1542	c.697G>T	c.(697-699)Gct>Tct	p.A233S	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A233S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A233S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A233S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A233S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A233S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	233	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTACTGCTATTTTGCA	0.408000													7	268					3.09899e-07	3.29471e-07	1	1	0
HK1	3098	broad.mit.edu	37	10	71139703	71139703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:71139703C>T	ENST00000448642.2	+	14	1611	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.H377Y|HK1_ENST00000298649.3_Missense_Mutation_p.H372Y|HK1_ENST00000360289.2_Missense_Mutation_p.H361Y|HK1_ENST00000359426.6_Missense_Mutation_p.H373Y			P19367	HXK1_HUMAN	hexokinase 1	373	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCAGTCCAGCACGTTTGCAC	0.552000													76	43					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191873690	191873690	+	Splice_Site	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:191873690T>A	ENST00000361099.3	-	4	659	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	STAT1_ENST00000540176.1_Splice_Site_p.Q91L|STAT1_ENST00000409465.1_Splice_Site_p.Q91L|STAT1_ENST00000392322.3_Splice_Site_p.Q91L|STAT1_ENST00000392323.2_Splice_Site_p.Q93L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	91					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGGTCATACCTGAAGATTACG	0.368000													28	7					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104863	5104863	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:5104863G>C	ENST00000396912.1	+	5	2295	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E592D	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	592	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACACAGGCGAGAAACCCTATG	0.383000													45	32					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346754	10346754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:10346754G>A	ENST00000255381.2	-	40	5868	c.5758C>T	c.(5758-5760)Caa>Taa	p.Q1920*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1920					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGACTTGGGACTCAGCA	0.468000													59	43					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358000													7	110					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50282164	50282164	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:50282164C>T	ENST00000404971.1	-	21	5196	c.3857G>A	c.(3856-3858)cGc>cAc	p.R1286H	NRXN1_ENST00000401669.2_Missense_Mutation_p.R1246H|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1238H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1238H|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1287H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCGCCAGGCGCTCGTTATC	0.338000													4	6					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303037	135303037	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:135303037T>G	ENST00000316077.9	-	16	2593	c.2373A>C	c.(2371-2373)ctA>ctC	p.L791L	MAP7D3_ENST00000370663.5_Silent_p.L773L|MAP7D3_ENST00000370661.1_Silent_p.L756L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	791						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TACCATCTTCTAGAAATACCA	0.373000													89	256					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021483	32021483	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:32021483C>T	ENST00000375244.3	-	25	8674	c.8473G>A	c.(8473-8475)Gag>Aag	p.E2825K	TNXB_ENST00000375247.2_Splice_Site			P22105	TENX_HUMAN	tenascin XB	2880	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E2825K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCATCCTCTGGAGCTGGA	0.587000													26	40					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039495	3039495	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:3039495C>G	ENST00000448120.2	+	5	527	c.476C>G	c.(475-477)tCa>tGa	p.S159*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.S159*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	159					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AATTCTGCATCAAGCCAGAAT	0.348000													4	23					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983114	149983114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:149983114C>T	ENST00000543571.1	-	8	3691	c.3144G>A	c.(3142-3144)tgG>tgA	p.W1048*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.W1048*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1048	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TATCATCACTCCATAATTTAT	0.373000													19	45					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878419	5878419	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:5878419G>T	ENST00000537935.1	-	1	545	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGGGCAGCCTCAGAAGG	0.512000													77	51					1.12115e-39	1.27951e-39	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47423722	47423722	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:47423722G>C	ENST00000404338.3	+	1	1790	c.1790G>C	c.(1789-1791)aGa>aCa	p.R597T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	597					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACATTGATAGAATCAACTTG	0.443000													72	107					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85036361	85036361	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:85036361C>G	ENST00000370630.5	-	2	268	c.220G>C	c.(220-222)Gat>Cat	p.D74H	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-							lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TGTGACCAATCATAAGATTTC	0.383000													15	58					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073227	134073227	+	Silent	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:134073227C>A	ENST00000264360.5	+	1	2758	c.1932C>A	c.(1930-1932)gtC>gtA	p.V644V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACGCCGAGTCCCGGCCAAGC	0.667000													25	46					2.48779e-11	2.74609e-11	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656298	240656298	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:240656298C>T	ENST00000318160.4	-	2	744	c.478G>A	c.(478-480)Gtg>Atg	p.V160M		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	160	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CTCAGGTTCACGGACATGCAC	0.711000													21	83					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040253	3040253	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:3040253C>T	ENST00000448120.2	+	6	594	c.543C>T	c.(541-543)ctC>ctT	p.L181L	TULP3_ENST00000397132.2_Silent_p.L181L	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	181				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGATAACCTCCTGGGAGACA	0.512000													45	116					0	0	1	0	0
RPA2	6118	broad.mit.edu	37	1	28218706	28218706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:28218706C>T	ENST00000373912.3	-	9	1080	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RPA2_ENST00000313433.7_Missense_Mutation_p.D349N|RPA2_ENST00000373909.3_Missense_Mutation_p.D269N	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	261	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				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|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGGTCATCATCCACAGTA	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					37	80					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388097	104388097	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr8:104388097G>A	ENST00000330295.5	+	2	424	c.282G>A	c.(280-282)ctG>ctA	p.L94L	CTHRC1_ENST00000520337.1_Silent_p.L80L|CTHRC1_ENST00000415886.2_Silent_p.L94L	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	94						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGGAATGTCTGAGGGAAAGCT	0.517000													19	71					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149523	42149523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr15:42149523G>A	ENST00000320955.6	-	51	8761	c.8534C>T	c.(8533-8535)gCa>gTa	p.A2845V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2845					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCAGCAGTGCCTCAGCCTG	0.682000													5	7					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935684	166935684	+	Silent	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:166935684A>T	ENST00000061240.2	+	8	1661	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	TLL1_ENST00000513213.1_Silent_p.A338A|TLL1_ENST00000507499.1_Silent_p.A338A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	338	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGATATCGCACAGGCAAGAA	0.458000													52	111					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724975	18724975	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:18724975C>A	ENST00000600490.1	+	4	563	c.378C>A	c.(376-378)agC>agA	p.S126R	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S126R			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	126						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCTGCTGGAGCCAGCCCGCGG	0.672000													3	19					1	1	1	1	0
ARIH2	10425	broad.mit.edu	37	3	49004694	49004694	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:49004694A>C	ENST00000356401.4	+	6	863	c.524A>C	c.(523-525)gAc>gCc	p.D175A	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.D175A	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	175					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTCGTCAAGGACGGCGTGGGC	0.488000													47	28					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	375376	375376	+	Silent	SNP	G	G	C	rs146315869		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:375376G>C	ENST00000280886.6	-	30	3837	c.3750C>G	c.(3748-3750)ctC>ctG	p.L1250L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1250						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCTTACCTTGAGGGACTCTG	0.552000													12	54					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112640	197112640	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:197112640A>G	ENST00000367409.4	-	3	998	c.742T>C	c.(742-744)Tca>Cca	p.S248P	ASPM_ENST00000294732.7_Missense_Mutation_p.S248P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAGATGAGTAGGTAGTA	0.378000													38	87					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76793656	76793656	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:76793656T>G	ENST00000261183.3	-	7	944	c.465A>C	c.(463-465)ttA>ttC	p.L155F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.L113F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.L113F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	155	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CACTGACCTTTAACCAATCAG	0.388000													7	20					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104973	5104973	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:5104973G>A	ENST00000396912.1	+	5	2405	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.G629E	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	629	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGTAAATGTGGAAAAGTCTTC	0.383000													48	52					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384977	195384977	+	RNA	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:195384977G>T	ENST00000445430.1	+	0	30																											CGTGTCGGGGGTCCGGGGCCT	0.771000													3	10					0.00024832	0.000255922	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78870024	78870024	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:78870024G>C	ENST00000286627.5	-	8	1990	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	KCNMA1_ENST00000404771.3_Silent_p.L346L|KCNMA1_ENST00000372443.1_Silent_p.L346L|KCNMA1_ENST00000372440.1_Silent_p.L346L|KCNMA1_ENST00000406533.3_Silent_p.L346L|KCNMA1_ENST00000286628.8_Silent_p.L346L|KCNMA1_ENST00000354353.5_Silent_p.L346L|KCNMA1_ENST00000404857.1_Silent_p.L346L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	346					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.L346L(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTGTGACCATGAGTAAATAGA	0.478000													196	72					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826275	42826275	+	Missense_Mutation	SNP	G	G	A	rs143943850		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr20:42826275G>A	ENST00000372970.2	-	6	476	c.296C>T	c.(295-297)gCg>gTg	p.A99V	OSER1_ENST00000255174.2_Missense_Mutation_p.A99V					oxidative stress responsive serine-rich 1																		GGAAGAAGACGCTATTGTACT	0.488000													4	108					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57669696	57669696	+	Splice_Site	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:57669696T>G	ENST00000554048.2	-	4	437	c.438A>C	c.(436-438)caA>caC	p.Q146H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TATCACTCACTTGGACTCTTG	0.468000													10	175					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149524	42149524	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr15:42149524C>G	ENST00000320955.6	-	51	8760	c.8533G>C	c.(8533-8535)Gca>Cca	p.A2845P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2845					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCAGCAGTGCCTCAGCCTGC	0.677000													3	7					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585721	82585721	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:82585721A>T	ENST00000333891.9	-	5	4885	c.4548T>A	c.(4546-4548)agT>agA	p.S1516R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1516R	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTTCACTACTCTCTTCAA	0.408000													23	20					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416085	49416085	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:49416085T>G	ENST00000301067.7	-	52	16389	c.16390A>C	c.(16390-16392)Acg>Ccg	p.T5464P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGGTCAACGTAGCATCAATC	0.498000													10	29					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948771	198948771	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:198948771A>T	ENST00000428675.1	+	2	928	c.530A>T	c.(529-531)aAc>aTc	p.N177I	PLCL1_ENST00000437704.2_Missense_Mutation_p.N79I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	177	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACATTTAGAAACAATGGCCTT	0.458000													11	128					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303786	5303786	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:5303786C>T	ENST00000274181.7	+	20	3231	c.3093C>T	c.(3091-3093)acC>acT	p.T1031T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1031	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGTCTGCACCTCCGAGCCCA	0.652000													21	97					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47101903	47101903	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:47101903G>A	ENST00000377107.2	+	11	1824	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	USP11_ENST00000218348.3_Silent_p.T533T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAAACACACGGGCATCTCGC	0.567000													10	73					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680130	33680130	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:33680130G>A	ENST00000394566.1	-	7	2223	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R651W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	651						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGTTTTCCGGGTCTCTGCT	0.388000													41	80					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596064	228596064	+	Silent	SNP	G	G	A	rs148358732	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:228596064G>A	ENST00000366697.2	-	6	2228	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TRIM17_ENST00000295033.3_Silent_p.F424F|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Silent_p.F424F			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	424	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCCGGCTTCGAAGTCCAGGA	0.597000													38	102					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124375	58124375	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:58124375G>A	ENST00000257897.3	-	12	1408	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	AGAP2_ENST00000547588.1_Silent_p.S777S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	777	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGGGGCTAGGGCTTGGCATGG	0.572000													48	165					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135315010	135315010	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:135315010T>G	ENST00000367837.5	-	8	1175	c.969A>C	c.(967-969)ggA>ggC	p.G323G	HBS1L_ENST00000367824.4_Silent_p.G159G|HBS1L_ENST00000527578.1_Silent_p.G159G|HBS1L_ENST00000367826.2_Silent_p.G281G|HBS1L_ENST00000415177.2_Silent_p.G258G|HBS1L_ENST00000445176.2_Silent_p.G47G	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	323					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCATGGTTACTCCCCTTAAAC	0.323000													19	19					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706396	241706396	+	Silent	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:241706396C>G	ENST00000498729.2	-	19	1866	c.1620G>C	c.(1618-1620)ctG>ctC	p.L540L	KIF1A_ENST00000320389.7_Silent_p.L531L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	531	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGTGCCCACTCAGAACAATGT	0.647000													29	14					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060867	189060867	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:189060867C>A	ENST00000332517.3	+	1	295	c.155C>A	c.(154-156)tCt>tAt	p.S52Y		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	52					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACACCTTTATCTTGTCCTGAG	0.582000													10	204					7.48243e-07	7.87214e-07	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564980	33564980	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:33564980C>T	ENST00000321505.4	+	1	1160	c.980C>T	c.(979-981)cCa>cTa	p.P327L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P327L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P327L					KIAA1549-like																		CCTTCAGGACCACCTCTACCT	0.498000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	66					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48687774	48687774	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:48687774G>C	ENST00000338270.1	+	1	492	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	81					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CTACTGGAAGGAGTTGACCCT	0.617000													24	98					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71139652	71139652	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:71139652C>G	ENST00000448642.2	+	14	1560	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.L360V|HK1_ENST00000298649.3_Missense_Mutation_p.L355V|HK1_ENST00000360289.2_Missense_Mutation_p.L344V|HK1_ENST00000359426.6_Missense_Mutation_p.L356V			P19367	HXK1_HUMAN	hexokinase 1	356	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CAAAGAAATCCTGACCCGCCT	0.532000													60	28					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540010	169540010	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:169540010C>T	ENST00000340806.6	+	1	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	101										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCCTGGACCTGAGCTACAA	0.592000													60	224					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390396	48390396	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:48390396C>T	ENST00000224600.4	-	1	595	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	161	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G161D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCGGAGGTGCCCATGAGATT	0.627000													44	56					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189573	29189573	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:29189573G>T	ENST00000234961.2	+	3	1139	c.897G>T	c.(895-897)gcG>gcT	p.A299A		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGTGGCTGCGCTGCACCTGT	0.637000													15	17					0.0202918	0.0207017	1	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			39	4					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355378	98355378	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:98355378C>G	ENST00000339364.5	-	17	2493	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E614Q|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E391Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	792	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGGAAGGTCTCCCTGGTCGGA	0.433000													8	73					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385876	46385876	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr18:46385876G>A	ENST00000256413.3	+	12	2038	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	CTIF_ENST00000382998.4_Silent_p.L583L	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	581					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGAACCCTCTGACGCCCCCCA	0.652000													44	83					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	59					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54059203	54059203	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:54059203A>G	ENST00000338662.5	-	5	1574	c.369T>C	c.(367-369)tcT>tcC	p.S123S	ATP5G2_ENST00000550241.1_Intron|ATP5G2_ENST00000549164.1_Silent_p.S107S|ATP5G2_ENST00000394349.3_Silent_p.S164S|ATP5G2_ENST00000602871.1_Silent_p.S107S	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	107					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GTTGCTTCAGAGAAGGGTTCC	0.478000													14	41					0	0	1	0	0
SAA3P	6290	broad.mit.edu	37	11	18134752	18134752	+	RNA	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:18134752C>T	ENST00000534768.1	-	0	229					NR_026576.1															lung(2)	2						ATCATAGTTCCCCCAAGCATG	0.448000													3	0					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824694	224824694	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:224824694C>A	ENST00000258383.3	+	2	692	c.623C>A	c.(622-624)cCt>cAt	p.P208H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	208	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCAGTGGACCTGAGAGGACT	0.428000													8	127					5.68852e-11	6.21125e-11	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873797	91873797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:91873797C>G	ENST00000373094.1	+	7	4747	c.3902C>G	c.(3901-3903)aCa>aGa	p.T1301R	PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1291R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1293R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1283R|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T1264R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T1264R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1301					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTAGTGCAACATCTCAGTTT	0.483000													54	296					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195384986	195384986	+	RNA	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:195384986C>T	ENST00000445430.1	+	0	39																											GGTCCGGGGCCTGTCGCGGTT	0.781000													4	11					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262801	76262801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:76262801C>A	ENST00000263187.3	+	1	235	c.131C>A	c.(130-132)tCg>tAg	p.S44*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	44					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCCGCCCTTCGGTCCAGGTG	0.672000								Mismatch excision repair (MMR)					15	52					4.7546e-09	5.08164e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090041	9090041	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:9090041C>T	ENST00000397910.4	-	1	1977	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGATTCTCCGATGAGTGTG	0.547000													20	32					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91778977	91778977	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:91778977T>C	ENST00000370425.3	-	30	3418	c.3320A>G	c.(3319-3321)cAa>cGa	p.Q1107R	HFM1_ENST00000370424.3_Missense_Mutation_p.Q786R|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Q339R	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1107							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATTTTCTTTGCATAGTGAT	0.318000													17	40					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068111	190068111	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:190068111G>T	ENST00000367462.3	-	8	1569	c.1338C>A	c.(1336-1338)gcC>gcA	p.A446A	BRINP3_ENST00000534846.1_Silent_p.A344A	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	446																	GGCAGGCAGAGGCGTCTCCCA	0.642000													8	114					0.0381472	0.0385287	1	1	0
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:5104735G>C	ENST00000396912.1	+	5	2167	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E550Q	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E550K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388000													46	42					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71144090	71144090	+	Splice_Site	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:71144090G>A	ENST00000448642.2	+	16	2066	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Splice_Site_p.E528E|HK1_ENST00000298649.3_Splice_Site_p.E523E|HK1_ENST00000360289.2_Splice_Site_p.E512E|HK1_ENST00000359426.6_Splice_Site_p.E524E			P19367	HXK1_HUMAN	hexokinase 1	524	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCAACAGAGAATGGTGACT	0.478000													86	42					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169775154	169775154	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:169775154C>G	ENST00000286031.6	+	7	1188	c.488C>G	c.(487-489)tCt>tGt	p.S163C	C1orf112_ENST00000359326.4_Missense_Mutation_p.S163C|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.S134C|C1orf112_ENST00000456684.1_Missense_Mutation_p.S221C	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	163										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTATTCATTCTTTATTGGAT	0.303000													7	16					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318440	41318440	+	Missense_Mutation	SNP	A	A	T	rs141443364		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr22:41318440A>T	ENST00000357137.4	+	8	1243	c.1159A>T	c.(1159-1161)Atg>Ttg	p.M387L	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.M364L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	387					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CATCTACAGCATGATGCTGAC	0.468000													102	193					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69233624	69233624	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:69233624C>G	ENST00000462284.1	+	11	1791	c.1489C>G	c.(1489-1491)Ccc>Gcc	p.P497A	MDM2_ENST00000540827.1_Missense_Mutation_p.P296A|MDM2_ENST00000258148.7_Missense_Mutation_p.P442A|MDM2_ENST00000350057.5_Missense_Mutation_p.P466A|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Missense_Mutation_p.P265A|MDM2_ENST00000517852.1_Missense_Mutation_p.P130A|MDM2_ENST00000428863.2_Missense_Mutation_p.P270A|MDM2_ENST00000356290.4_Missense_Mutation_p.P321A|MDM2_ENST00000393410.1_Missense_Mutation_p.P243A|MDM2_ENST00000360430.2_Missense_Mutation_p.P296A|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.P436A|MDM2_ENST00000393413.3_Missense_Mutation_p.P218A|MDM2_ENST00000299252.4_Missense_Mutation_p.P321A|MDM2_ENST00000393412.3_Missense_Mutation_p.P218A	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	491					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AACTTATTTCCCCTAGTTGAC	0.333000			A		"""sarcoma, glioma, colorectal, other"""								15	22					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075755	145075755	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:145075755C>T	ENST00000369359.4	-	1	146	c.108G>A	c.(106-108)gcG>gcA	p.A36A	PDE4DIP_ENST00000369348.3_Silent_p.A36A|PDE4DIP_ENST00000369345.4_Silent_p.A36A|PDE4DIP_ENST00000530740.1_Silent_p.A36A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGTTCGCGTCGCGTCCCCGG	0.726000			T	PDGFRB	MPD								16	208					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	rs143691874		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCCGGAGCC	0.647000													49	53					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70866582	70866582	+	Silent	SNP	T	T	C	rs112579213		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:70866582T>C	ENST00000246895.4	+	5	216	c.105T>C	c.(103-105)taT>taC	p.Y35Y	STATH_ENST00000381060.2_Silent_p.Y25Y	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	35					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						GTATACAGTATGGGTATGGCC	0.363000													12	87					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194249	60194249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr14:60194249C>A	ENST00000267484.5	-	3	1488	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	385					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCTTGACCTCGGGCCTGTCG	0.652000													5	21					0.0215528	0.0218777	1	1	0
IRX1	79192	broad.mit.edu	37	5	3596419	3596419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:3596419C>T	ENST00000302006.3	+	1	252	c.200C>T	c.(199-201)gCg>gTg	p.A67V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TACGCGGCGGCGGGGCCGTAC	0.776000													6	23					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145616824	145616824	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr8:145616824G>A	ENST00000308860.6	+	8	887	c.843G>A	c.(841-843)gaG>gaA	p.E281E	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	281	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCGAGAATGAGGGCCGCAACG	0.672000													5	8					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590825	102590825	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr9:102590825C>G	ENST00000330847.1	+	2	578	c.534C>G	c.(532-534)atC>atG	p.I178M	NR4A3_ENST00000338488.4_Missense_Mutation_p.I167M|NR4A3_ENST00000395097.2_Missense_Mutation_p.I167M			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	167					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCGGCTGCATCGCACCCGGCC	0.746000			T	EWSR1	extraskeletal myxoid chondrosarcoma								11	6					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	19					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507278	64507278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:64507278G>A	ENST00000377494.1	-	6	1448	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RASGRP2_ENST00000354024.3_Nonsense_Mutation_p.Q176*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.Q176*|RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.Q176*			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	176	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGATAGTCCTGAAACTGGGGG	0.572000													62	20					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868511	9868511	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:9868511C>A	ENST00000397902.2	-	6	1655	c.1242G>T	c.(1240-1242)agG>agT	p.R414S	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CAGTGTGAATCCTTACATGTT	0.393000													34	49					4.4194e-11	4.85174e-11	1	1	0
IAPP	3375	broad.mit.edu	37	12	21531175	21531175	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:21531175C>G	ENST00000542023.1	+	4	278	c.177C>G	c.(175-177)atC>atG	p.I59M	IAPP_ENST00000539393.1_Missense_Mutation_p.Q29E|SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000240652.3_Missense_Mutation_p.Q29E|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron			P10997	IAPP_HUMAN	islet amyloid polypeptide	0					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	TACCAGTCATCAGGTGGAAAA	0.413000													50	45					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212355	183212355	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:183212355C>T	ENST00000264144.4	+	23	3467	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1134	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGACCCAGATCAACAGCCAAC	0.532000													33	68					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584477	1584477	+	Silent	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:1584477G>C	ENST00000381297.4	-	2	1185	c.975C>G	c.(973-975)ctC>ctG	p.L325L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	325						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCGGAGAAGAGGCTCTCGC	0.667000			T	CRLF2	"""B-ALL, Downs associated ALL"""								104	74					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138163	203138163	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:203138163C>T	ENST00000255416.4	-	9	1345	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	430	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCAGAGAGGGCGCGGTATTTG	0.562000													10	194					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761295	27761295	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:27761295C>T	ENST00000261588.4	+	16	3033	c.3014C>T	c.(3013-3015)cCg>cTg	p.P1005L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1005										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAGGGTGAACCGGTGCAGATT	0.502000													14	30					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482195	39482195	+	RNA	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:39482195G>A	ENST00000513652.1	+	0	321																											GCCTACGCCCGTGAAGCCAAA	0.577000													39	71					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888717	63888717	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr14:63888717G>C	ENST00000337537.3	-	4	1052	c.450C>G	c.(448-450)caC>caG	p.H150Q	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.H150Q|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.H74Q	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	150					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTACCTGTAAGTGTGGCCACG	0.383000													15	61					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	32					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	48					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163136595	163136595	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:163136595T>C	ENST00000263642.2	-	8	1947	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	518					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACAGTTTTAATAGTAAATGCA	0.338000													38	14					0	0	1	0	0
ZFP92	139735	broad.mit.edu	37	X	152686420	152686420	+	Silent	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:152686420C>A	ENST00000338647.5	+	4	586	c.585C>A	c.(583-585)ctC>ctA	p.L195L		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(4)	6						GCTTCGCGCTCCTGGAGCACC	0.642000													13	9					5.50884e-06	5.73601e-06	1	1	0
TNN	63923	broad.mit.edu	37	1	175086321	175086321	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:175086321C>T	ENST00000239462.4	+	10	2479	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	789	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAAGAAGGCTGACACCAAG	0.547000													69	61					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058768	113058768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:113058768G>A	ENST00000369686.5	+	4	457	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	WNT2B_ENST00000256640.5_Missense_Mutation_p.R45Q|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369684.4_Missense_Mutation_p.R137Q	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGGTAGCCGAGAGGCAGCT	0.532000													77	55					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226580641	226580641	+	Nonstop_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:226580641C>A	ENST00000366792.1	-	3	472	c.327G>T	c.(325-327)taG>taT	p.*109Y	PARP1_ENST00000366791.5_Nonstop_Mutation_p.*109Y|PARP1_ENST00000366794.5_Intron			P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	0					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		taagacgaagctatcttccca	0.353000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	15					7.01153e-11	7.61468e-11	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237374293	237374293	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:237374293G>A	ENST00000409907.3	-	6	1055	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	IQCA1_ENST00000431676.2_Missense_Mutation_p.R261C|IQCA1_ENST00000309507.5_Missense_Mutation_p.R257C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	261							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCGCAGGCGGTCCACCTTT	0.433000													28	9					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278283	114278283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:114278283G>C	ENST00000357077.4	+	38	8562	c.8509G>C	c.(8509-8511)Gca>Cca	p.A2837P	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2804P|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2804					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTCCACAAGCAGATTGCCC	0.413000													40	87					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:26822398G>C	ENST00000376236.4	+	9	1299	c.844G>C	c.(844-846)Gaa>Caa	p.E282Q		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000													16	8					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	14					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64414652	64414652	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:64414652G>A	ENST00000395251.1	+	3	422	c.88G>A	c.(88-90)Gga>Aga	p.G30R	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	30										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ttgcctgcacggagcttacct	0.418000													77	31					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457709	64457709	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr14:64457709C>T	ENST00000358025.3	+	21	2752	c.2522C>T	c.(2521-2523)tCa>tTa	p.S841L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S841L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S841L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	841					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTGACGTTTCACCAGATTTG	0.408000													23	50					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218699820	218699820	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:218699820T>A	ENST00000171887.4	-	19	3351	c.2899A>T	c.(2899-2901)Agt>Tgt	p.S967C	TNS1_ENST00000419504.1_Missense_Mutation_p.S967C|TNS1_ENST00000430930.1_Missense_Mutation_p.S967C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	967						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTACCCCCACTGGGTGGTGGG	0.617000													74	20					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430589	116430589	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr8:116430589T>A	ENST00000395715.3	-	6	3369	c.2792A>T	c.(2791-2793)aAc>aTc	p.N931I	TRPS1_ENST00000520276.1_Missense_Mutation_p.N922I|TRPS1_ENST00000519076.1_Missense_Mutation_p.N672I|TRPS1_ENST00000220888.5_Missense_Mutation_p.N918I	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	918					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCACACGCGTTGCATACATA	0.483000									Langer-Giedion syndrome				106	79					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149893662	149893662	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:149893662A>G	ENST00000367419.5	+	3	321	c.200A>G	c.(199-201)tAt>tGt	p.Y67C		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		AACATAACCTATGAGAGTGGA	0.303000													16	41					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694697	141694697	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:141694697C>T	ENST00000344120.4	-	3	232	c.46G>A	c.(46-48)Gta>Ata	p.V16I	SPRY4_ENST00000503582.1_5'UTR|SPRY4_ENST00000434127.2_5'UTR	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	0					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACTGTACGGAGAAACAG	0.612000									Testicular Cancer, Familial Clustering of				12	21					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934410	113934410	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr11:113934410G>A	ENST00000335953.4	+	2	768	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D130N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	130					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGCCTCAGACGACAATGACAC	0.587000													20	12					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63481823	63481823	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr18:63481823C>T	ENST00000536984.2	+	4	1302	c.608C>T	c.(607-609)tCa>tTa	p.S203L	CDH7_ENST00000397968.2_Missense_Mutation_p.S203L|CDH7_ENST00000323011.3_Missense_Mutation_p.S203L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	203	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCGTACTTCTCAGTGGAGCCA	0.398000													31	80					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915882	126915882	+	Silent	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:126915882G>T	ENST00000398112.1	+	2	594	c.354G>T	c.(352-354)ccG>ccT	p.P118P		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TAGGAAGTCCGTATCTGGCTG	0.597000													130	394					1.50598e-64	1.72846e-64	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224921	248224921	+	Splice_Site	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:248224921A>G	ENST00000359959.3	+	1	938	c.938A>G	c.(937-939)tAg>tGg	p.*313W	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGAAAATGTAGAAACATTTT	0.433000													38	32					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961599	69961599	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:69961599G>A	ENST00000358913.5	+	18	3995	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	MYPN_ENST00000354393.2_Silent_p.K894K|MYPN_ENST00000540630.1_Silent_p.K1169K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1169	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAGGTGAAGAAAGCACCTG	0.507000													7	97					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404887	91404887	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:91404887G>A	ENST00000370440.1	-	3	2241	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S675L|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATGAATTTTTGAAAAACTACT	0.373000													34	81					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388110	104388110	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr8:104388110G>C	ENST00000330295.5	+	2	437	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	CTHRC1_ENST00000520337.1_Missense_Mutation_p.E85Q|CTHRC1_ENST00000415886.2_Missense_Mutation_p.E99Q	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	99						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGAAAGCTTTGAGGAGTCCTG	0.473000													14	53					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74655448	74655448	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr2:74655448G>A	ENST00000305557.5	-	10	1579	c.994C>T	c.(994-996)Cct>Tct	p.P332S	RTKN_ENST00000233330.6_Missense_Mutation_p.P295S|RTKN_ENST00000272430.5_Missense_Mutation_p.P345S	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	345	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCATCCTCAGGTTGCCGGTAA	0.527000													66	72					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	886120	886120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:886120C>A	ENST00000312090.6	-	5	679	c.529G>T	c.(529-531)Gag>Tag	p.E177*	MED16_ENST00000589119.1_Nonsense_Mutation_p.E177*|MED16_ENST00000269814.4_Nonsense_Mutation_p.E177*|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Nonsense_Mutation_p.E177*|MED16_ENST00000325464.1_Nonsense_Mutation_p.E177*			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	177					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCAGCCCTCCATGGGCTTG	0.677000													17	25					1.45105e-14	1.6284e-14	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	55996293	55996293	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr18:55996293C>T	ENST00000456986.1	+	10	984	c.384C>T	c.(382-384)ttC>ttT	p.F128F	NEDD4L_ENST00000456173.2_Silent_p.F128F|NEDD4L_ENST00000256830.9_Silent_p.F249F|NEDD4L_ENST00000431212.2_Silent_p.F128F|NEDD4L_ENST00000400345.3_Silent_p.F249F|NEDD4L_ENST00000357895.5_Silent_p.F241F|NEDD4L_ENST00000435432.2_Silent_p.F128F|NEDD4L_ENST00000256832.7_Silent_p.F128F|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Silent_p.F249F|NEDD4L_ENST00000586263.1_Silent_p.F241F|NEDD4L_ENST00000356462.6_Silent_p.F249F	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	249					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACCGGCGCTTCCGCTCCCGCA	0.612000													21	41					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573059	64573059	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr10:64573059C>T	ENST00000242480.3	-	2	1664	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	EGR2_ENST00000439032.1_Missense_Mutation_p.V447M|EGR2_ENST00000411732.1_Missense_Mutation_p.V397M	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	447					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAGGCTGCACGCCCCCAGAG	0.642000													74	24					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830810	46830810	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:46830810G>T	ENST00000283296.7	-	15	2302	c.2014C>A	c.(2014-2016)Ccc>Acc	p.P672T	GPR116_ENST00000362015.4_Missense_Mutation_p.P672T|GPR116_ENST00000265417.7_Missense_Mutation_p.P672T|GPR116_ENST00000545669.1_Missense_Mutation_p.P101T|GPR116_ENST00000456426.2_Missense_Mutation_p.P530T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	672					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTATTACGGGATCCTGGCAT	0.493000													16	33					3.52763e-06	3.69213e-06	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327797	88327797	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr13:88327797T>A	ENST00000325089.6	+	2	373	c.154T>A	c.(154-156)Tgt>Agt	p.C52S	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	52						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGACAATGCATGTCCTTGTGA	0.473000													42	101					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104695	5104695	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:5104695G>C	ENST00000396912.1	+	5	2127	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E536D	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	536	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CAAAAGGGGAGAAATCCTATG	0.373000													59	60					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189381	167189381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:167189381G>A	ENST00000476257.1	-	3	540	c.242C>T	c.(241-243)tCa>tTa	p.S81L	SERPINI2_ENST00000264677.4_Missense_Mutation_p.S81L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S81L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S81L|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	81					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTCACCAGCTGAGGTTTCCTG	0.363000													58	123					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402893	126402893	+	Splice_Site	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr4:126402893G>T	ENST00000394329.3	+	15	12829	c.12816G>T	c.(12814-12816)aaG>aaT	p.K4272N	FAT4_ENST00000335110.5_Splice_Site_p.K2513N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4272	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTACTGTGAAGGTGAGATAAA	0.408000													12	21					4.3838e-07	4.63627e-07	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42526165	42526165	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:42526165G>A	ENST00000262895.3	-	13	1630	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	GRIK5_ENST00000593562.1_Missense_Mutation_p.P544L|GRIK5_ENST00000301218.4_Missense_Mutation_p.P544L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	544						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCACACAGCAGGGGAGAAGGG	0.632000													15	16					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31592245	31592245	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr14:31592245C>A	ENST00000399332.1	-	27	5478	c.4990G>T	c.(4990-4992)Gat>Tat	p.D1664Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D1664Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1664					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CGGCAGCTATCAAGGAAATCT	0.378000													19	53					7.45023e-12	8.26893e-12	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262642	45262642	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:45262642G>T	ENST00000303230.4	-	8	2111	c.2054C>A	c.(2053-2055)aCa>aAa	p.T685K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	685						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGGGTCTGTGTGCTGGGACT	0.627000													37	90					6.90743e-12	7.70884e-12	1	1	0
PARD6A	50855	broad.mit.edu	37	16	67696156	67696156	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr16:67696156T>C	ENST00000458121.2	+	3	735	c.644T>C	c.(643-645)cTc>cCc	p.L215P	PARD6A_ENST00000602551.1_Missense_Mutation_p.L186P|PARD6A_ENST00000219255.3_Missense_Mutation_p.L216P	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	216	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GATGAGATCCTCGAGGTCAAT	0.587000													11	108					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317933	46317933	+	Silent	SNP	T	T	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:46317933T>G	ENST00000221538.3	-	1	644	c.502A>C	c.(502-504)Agg>Cgg	p.R168R	RSPH6A_ENST00000597055.1_Silent_p.R168R	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	168						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGGTCATCCCTTATGTAAGGC	0.617000													34	62					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515344	54515344	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:54515344C>T	ENST00000252729.2	+	4	1274	c.684C>T	c.(682-684)ggC>ggT	p.G228G	CACNG6_ENST00000346968.2_Silent_p.G182G|CACNG6_ENST00000352529.1_Silent_p.G157G	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	228						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TGGGGGCCGGCCTGATCCTGC	0.716000													41	79					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734728	110734728	+	Silent	SNP	C	C	T	rs140501605		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:110734728C>T	ENST00000331565.4	+	7	1484	c.999C>T	c.(997-999)gcC>gcT	p.A333A		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	333					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTTCGATGCCGCCCTGGTGT	0.537000													29	86					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464878	33464878	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:33464878C>A	ENST00000442241.4	-	5	531	c.492G>T	c.(490-492)tgG>tgT	p.W164C	NLE1_ENST00000360831.5_Intron|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	164						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CATCTGGAGACCAGGATATAC	0.532000													5	91					3.59834e-05	3.72751e-05	1	1	0
PLOD3	8985	broad.mit.edu	37	7	100859192	100859192	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:100859192C>T	ENST00000223127.3	-	5	1010	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	204					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTACCCTCAGTCCTGGGT	0.582000													19	56					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936965	15936965	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:15936965C>T	ENST00000504595.1	+	4	1627	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	FBXL7_ENST00000329673.7_Silent_p.N370N|FBXL7_ENST00000510662.1_Silent_p.N335N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	382					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTCAACGCGAGGGGCT	0.617000													15	73					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420408	49420408	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:49420408T>C	ENST00000301067.7	-	48	15340	c.15341A>G	c.(15340-15342)cAt>cGt	p.H5114R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACAAGCAAAATGGTAGACATT	0.557000													71	73					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86952415	86952415	+	Silent	SNP	C	C	T	rs111337245		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:86952415C>T	ENST00000234701.3	+	8	1512	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	CLCA1_ENST00000394711.1_Silent_p.S387S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	387	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCATCTGCAGCGGGCTTCGAT	0.428000													74	84					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													7	251					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19384101	19384101	+	Silent	SNP	A	A	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr3:19384101A>G	ENST00000328405.2	+	4	731	c.465A>G	c.(463-465)agA>agG	p.R155R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	155						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAAGATCAAGAGCAGGGACCC	0.428000													23	23					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878070	76878070	+	Silent	SNP	T	T	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr1:76878070T>C	ENST00000328299.3	+	3	739	c.591T>C	c.(589-591)gaT>gaC	p.D197D	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	197					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTTACTGTGATGGAGTTTTTA	0.403000													30	44					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	66					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94882606	94882606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr15:94882606G>A	ENST00000357742.4	+	4	725	c.725G>A	c.(724-726)tGg>tAg	p.W242*	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.W242*|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.W242*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	242	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AACCCAGTATGGGATGAGATA	0.353000													33	58					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3106258	3106259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr6:3106258_3106259insT	ENST00000259808.4	+	9	1847_1848	c.1549_1550insT	c.(1549-1551)atgfs	p.M517fs	RIPK1_ENST00000541791.1_Frame_Shift_Ins_p.M471fs|RIPK1_ENST00000380409.2_Frame_Shift_Ins_p.M517fs|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	517	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACACCCACCATGCCATTCAGC	0.441													49	77	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													9	17	---	---	---	---					
ZNF117	51351	broad.mit.edu	37	7	64439025	64439025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr7:64439025delT	ENST00000282869.6	-	4	2208	c.924delA	c.(922-924)gaafs	p.E309fs		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGCCACATTCTTCACATTTGT	0.368													14	58	---	---	---	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													7	439	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12626238	12626239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:12626238_12626239insA	ENST00000425538.1	+	5	528_529	c.328_329insA	c.(328-330)gaafs	p.E110fs	AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.E14fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.E110fs|MYOCD_ENST00000395988.1_3'UTR	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGCT	0.450													82	149	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													7	33	---	---	---	---					
MRC2	9902	broad.mit.edu	37	17	60744819	60744819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr17:60744819delA	ENST00000303375.5	+	6	1444	c.1042delA	c.(1042-1044)aacfs	p.N348fs		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	348	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGCTGGCAGAACCGTGACTG	0.682													50	117	---	---	---	---					
ZNF544	27300	broad.mit.edu	37	19	58773518	58773518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr19:58773518delG	ENST00000269829.4	+	7	2020	c.1546delG	c.(1546-1548)ggafs	p.G516fs	ZNF544_ENST00000600220.1_Frame_Shift_Del_p.G488fs|ZNF544_ENST00000599953.1_Frame_Shift_Del_p.G374fs|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Frame_Shift_Del_p.G488fs|ZNF544_ENST00000596652.1_Frame_Shift_Del_p.G516fs|ZNF544_ENST00000600044.1_Frame_Shift_Del_p.G488fs|CTD-3138B18.5_ENST00000597230.1_RNA	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GACACACACTGGAGAGAAGCC	0.443													32	80	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	6	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35532648	35532663	+	Splice_Site	DEL	TCCTCCTGGAAAACAC	TCCTCCTGGAAAACAC	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr20:35532648_35532663delTCCTCCTGGAAAACAC	ENST00000262878.4	-	13	1610_1614	c.1411_1415delGTGTTTTCCAGGAGGA	c.(1411-1416)gtgttt>t	p.VF471fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	471					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGATTCATAGTCCTCCTGGAAAACACAAGACTCCCC	0.380													20	76	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61834432	61834433	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr20:61834432_61834433insG	ENST00000370339.3	-	4	1200_1201	c.859_860insC	c.(859-861)cagfs	p.Q287fs	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Frame_Shift_Ins_p.Q237fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	287	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGTGCCTGCTGGGGGACTGGG	0.649													92	71	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	64acc741-5e0b-42d6-bec0-68722fe05563	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		catcaccaccaccaccatcacc	0.579													3	6	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													10	150	---	---	---	---					
RIPK1	8737	broad.mit.edu	37	6	3106258	3106259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr6:3106258_3106259insT	ENST00000259808.4	+	9	1847_1848	c.1549_1550insT	c.(1549-1551)atgfs	p.M517fs	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Frame_Shift_Ins_p.M517fs|RIPK1_ENST00000541791.1_Frame_Shift_Ins_p.M471fs			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	517	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACACCCACCATGCCATTCAGC	0.441													49	77	---	---	---	---					
ZNF117	51351	broad.mit.edu	37	7	64439025	64439025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr7:64439025delT	ENST00000282869.6	-	4	2208	c.924delA	c.(922-924)gaafs	p.E309fs		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGCCACATTCTTCACATTTGT	0.368													14	58	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	RNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553													4	6	---	---	---	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													7	439	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12626238	12626239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:12626238_12626239insA	ENST00000425538.1	+	5	528_529	c.328_329insA	c.(328-330)gaafs	p.E110fs	AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.E14fs|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.E110fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGCT	0.450													82	149	---	---	---	---					
MRC2	9902	broad.mit.edu	37	17	60744819	60744819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr17:60744819delA	ENST00000303375.5	+	6	1444	c.1042delA	c.(1042-1044)aacfs	p.N348fs		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	348	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGCTGGCAGAACCGTGACTG	0.682													50	117	---	---	---	---					
ZNF544	27300	broad.mit.edu	37	19	58773518	58773518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr19:58773518delG	ENST00000269829.4	+	7	2020	c.1546delG	c.(1546-1548)ggafs	p.G516fs	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Frame_Shift_Del_p.G488fs|ZNF544_ENST00000599953.1_Frame_Shift_Del_p.G374fs|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Frame_Shift_Del_p.G516fs|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Frame_Shift_Del_p.G488fs|ZNF544_ENST00000600220.1_Frame_Shift_Del_p.G488fs|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GACACACACTGGAGAGAAGCC	0.443													32	80	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	6	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35532648	35532663	+	Splice_Site	DEL	TCCTCCTGGAAAACAC	TCCTCCTGGAAAACAC	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr20:35532648_35532663delTCCTCCTGGAAAACAC	ENST00000262878.4	-	13	1610_1614	c.1411_1415delGTGTTTTCCAGGAGGA	c.(1411-1416)gtgttt>t	p.VF471fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	471					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGATTCATAGTCCTCCTGGAAAACACAAGACTCCCC	0.380													20	76	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		catcaccaccaccaccatcacc	0.579													3	6	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135333477	135333477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RI-01A-11D-A289-08	TCGA-K4-A5RI-11A-11D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	052ddf38-2338-4271-8154-38d24df6c6c3	14f050ac-ba93-4f52-b0de-6ae53f2adea7	g.chrX:135333477delG	ENST00000316077.9	-	1	261	c.41delC	c.(40-42)ccafs	p.P14fs	MAP7D3_ENST00000370663.5_Intron|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.P14fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	14						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTCAAGGATGGGCTGCCGCC	0.751													2	4	---	---	---	---