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
LVRN	206338	broad.mit.edu	37	5	115298444	115298444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:115298444C>T	ENST00000357872.4	+	1	254	c.130C>T	c.(130-132)Cca>Tca	p.P44S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		44					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CGAGCGCGTCCCACCGTCGGA	0.697000													10	11					0	0	0.006214	0	0
ZNF746	155061	broad.mit.edu	37	7	149191310	149191310	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:149191310C>T	ENST00000461958.2	-	2	505	c.309G>A	c.(307-309)aaG>aaA	p.K103K	ZNF746_ENST00000458143.2_Silent_p.K103K|ZNF746_ENST00000340622.3_Silent_p.K103K			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	103	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGACTCCCCCTTGCTGCCCG	0.652000													94	87					0	0	0.003610	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302634	87302634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:87302634G>A	ENST00000263780.4	+	5	743	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CHMP2B_ENST00000494980.1_Missense_Mutation_p.E139K|CHMP2B_ENST00000471660.1_Missense_Mutation_p.E128K	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	169					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGTTCTTGATGAAATTGGAAT	0.358000													9	24					0	0	0.006214	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770121	135770121	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135770121C>T	ENST00000250617.6	-	11	2420	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	ARHGEF6_ENST00000370620.1_Silent_p.L251L|ARHGEF6_ENST00000370622.1_Silent_p.L251L|ARHGEF6_ENST00000535227.1_Silent_p.L278L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	405	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CGATTGCTTTCAGAATATCCT	0.378000													8	147					0	0	0.003080	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183195	39183195	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:39183195G>A	ENST00000361883.5	-	1	259	c.213C>T	c.(211-213)tgC>tgT	p.C71C		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	71	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTTGGCTGGCAGCAGCTGG	0.612000													21	63					0	0	0.008871	0	0
PKP1	5317	broad.mit.edu	37	1	201294192	201294192	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:201294192A>T	ENST00000263946.3	+	12	2272	c.2021A>T	c.(2020-2022)cAa>cTa	p.Q674L	PKP1_ENST00000367324.3_Missense_Mutation_p.Q653L|PKP1_ENST00000352845.3_Missense_Mutation_p.Q674L	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	674					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCGCAGCCACAACTGGCCAAG	0.592000													37	158					0	0	0.006230	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801049	185801049	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:185801049C>A	ENST00000302277.6	+	4	1520	c.926C>A	c.(925-927)cCt>cAt	p.P309H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	309						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTATTACCTTCATTTTGC	0.343000													9	27					0.000274275	0.000319666	0.004482	1	0
ATP7B	540	broad.mit.edu	37	13	52544664	52544664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:52544664C>A	ENST00000242839.4	-	3	1663	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ATP7B_ENST00000542656.1_Missense_Mutation_p.V471L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V503L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V503L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V503L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V392L|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	503	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATGTTAGACACACAGGATGCA	0.488000									Wilson disease				40	160					1.03484e-13	1.63499e-13	0.005524	1	0
IMPG1	3617	broad.mit.edu	37	6	76715160	76715160	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:76715160A>G	ENST00000369950.3	-	10	1168	c.979T>C	c.(979-981)Tcc>Ccc	p.S327P	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	327	SEA 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)				ATTTTGTTGGAATCAAAAGAC	0.448000													4	68					0	0	0.000248	0	0
DNAH1	25981	broad.mit.edu	37	3	52403852	52403852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:52403852G>T	ENST00000420323.2	+	38	6216	c.5955G>T	c.(5953-5955)atG>atT	p.M1985I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1985	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAATGACCATGATGTTCGAGG	0.622000													16	33					0.00400662	0.00454176	0.004007	1	0
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153880627G>A	ENST00000247306.4	-	2	611	c.548C>T	c.(547-549)cCa>cTa	p.P183L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	183	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CGGCGGGCCTGGTGTACCAGG	0.607000													42	116					0	0	0.008740	0	0
C2orf78	388960	broad.mit.edu	37	2	74040627	74040627	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74040627C>T	ENST00000409561.1	+	2	242	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	41	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TACGTCTTTACCTGGAACTGC	0.423000													6	20					0	0	0.001168	0	0
IGHE	3497	broad.mit.edu	37	14	106066439	106066439	+	RNA	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:106066439G>T	ENST00000577108.1	-	0	107				IGHE_ENST00000576077.1_RNA																							CTCGCTGGACGGTCTGTGAGG	0.607000													26	58					2.65835e-16	4.38859e-16	0.007291	1	0
XPC	7508	broad.mit.edu	37	3	14220052	14220052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:14220052G>A	ENST00000285021.7	-	1	231	c.17C>T	c.(16-18)gCg>gTg	p.A6V	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.A6V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCGGCCGCGCGTTTCCG	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	46					0	0	0.008291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776202	77776202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:77776202G>A	ENST00000521891.2	+	11	10700	c.10252G>A	c.(10252-10254)Gca>Aca	p.A3418T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3392T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3369T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3373T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3369						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAGACGCCGCAGTAAATCA	0.423000										HNSCC(33;0.089)			7	23					0	0	0.001984	0	0
CCDC120	90060	broad.mit.edu	37	X	48920062	48920062	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:48920062G>C	ENST00000376396.3	+	4	332	c.113G>C	c.(112-114)cGg>cCg	p.R38P	CCDC120_ENST00000597275.1_Missense_Mutation_p.R38P|CCDC120_ENST00000422185.2_Missense_Mutation_p.R38P|CCDC120_ENST00000496529.2_Missense_Mutation_p.R38P|CCDC120_ENST00000536628.2_Missense_Mutation_p.R26P|CCDC120_ENST00000603986.1_Missense_Mutation_p.R73P	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	38							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTGCTTGACCGGCAGCGGACC	0.652000													21	34					0	0	0.001523	0	0
TECPR1	25851	broad.mit.edu	37	7	97870247	97870247	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:97870247G>A	ENST00000447648.2	-	8	1148	c.849C>T	c.(847-849)atC>atT	p.I283I	TECPR1_ENST00000542604.1_Silent_p.I213I|TECPR1_ENST00000379795.3_Silent_p.I283I			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	283						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCTCCACGATGGACCAGG	0.612000													9	4					0	0	0.006214	0	0
MICAL3	57553	broad.mit.edu	37	22	18301796	18301796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:18301796C>A	ENST00000441493.2	-	26	3983	c.3631G>T	c.(3631-3633)Gat>Tat	p.D1211Y		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1211	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGGGGGCATCAGCTTTGGGC	0.622000													7	24					1.06961e-07	1.41901e-07	0.003080	1	0
EYS	346007	broad.mit.edu	37	6	66112371	66112371	+	Splice_Site	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:66112371C>G	ENST00000503581.1	-	7	1721	c.1184_splice	c.e7+1	p.S395_splice	EYS_ENST00000370618.3_Splice_Site_p.S395_splice|EYS_ENST00000370616.2_Splice_Site_p.S395_splice|EYS_ENST00000370621.3_Splice_Site_p.S395_splice|EYS_ENST00000342421.5_Splice_Site_p.S395_splice|EYS_ENST00000393380.2_Splice_Site_p.S395_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	395	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTAATTATACCTGCAAGGATA	0.274000													3	18					0	0	0.004672	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571804	101571804	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:101571804A>G	ENST00000326172.5	+	4	650	c.535A>G	c.(535-537)Agg>Ggg	p.R179G	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R79G|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R179G	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGCTTGCAAAAGGCCAGCTCT	0.423000													15	69					0	0	0.002450	0	0
TPGS2	25941	broad.mit.edu	37	18	34385371	34385371	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:34385371G>A	ENST00000334295.4	-	4	775	c.348C>T	c.(346-348)ccC>ccT	p.P116P	TPGS2_ENST00000587129.1_Silent_p.P116P|TPGS2_ENST00000590842.1_Silent_p.P116P|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Silent_p.P116P|TPGS2_ENST00000383056.3_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	116						cytoplasm|microtubule											CTGCCAGAGTGGGTGCATTAG	0.493000													41	66					0	0	0.002522	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40269028	40269028	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:40269028C>G	ENST00000263791.5	+	12	2275	c.2232C>G	c.(2230-2232)gtC>gtG	p.V744V	EIF2AK4_ENST00000382727.2_Silent_p.V744V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	744	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGGTGGCGTCTTCTCCCAGT	0.607000													9	64					0	0	0.008291	0	0
AP4E1	23431	broad.mit.edu	37	15	51250970	51250970	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:51250970C>T	ENST00000261842.5	+	14	1936	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	AP4E1_ENST00000560508.1_Silent_p.D535D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	610					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCCAGTTGACAGGAGTTGTG	0.348000													11	49					0	0	0.000978	0	0
RFC3	5983	broad.mit.edu	37	13	34404941	34404941	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:34404941G>T	ENST00000380071.3	+	6	789	c.659G>T	c.(658-660)tGt>tTt	p.C220F	RFC3_ENST00000434425.1_Missense_Mutation_p.C220F	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	220					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAGAAGTCTTGTAGAAATCTC	0.428000													9	49					6.40141e-05	7.64934e-05	0.000978	1	0
FOXO4	4303	broad.mit.edu	37	X	70321243	70321243	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:70321243C>A	ENST00000374259.3	+	2	1495	c.1163C>A	c.(1162-1164)cCc>cAc	p.P388H	FOXO4_ENST00000341558.3_Missense_Mutation_p.P333H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	388					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CAGGTAGATCCCATTCTGTCC	0.637000													23	67					1.10513e-12	1.6896e-12	0.002299	1	0
DKC1	1736	broad.mit.edu	37	X	153993755	153993755	+	Nonsense_Mutation	SNP	G	G	T	rs121912302		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153993755G>T	ENST00000369550.5	+	3	331	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	41			E -> K (in XDKC; dbSNP:rs121912302).		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATCAAACCTGAATCCAAAGT	0.388000									Congenital Dyskeratosis				62	189					6.25564e-26	1.13458e-25	0.003610	1	0
RBM10	8241	broad.mit.edu	37	X	47045727	47045727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:47045727G>T	ENST00000377604.3	+	23	3350	c.2608G>T	c.(2608-2610)Ggc>Tgc	p.G870C	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.G793C|RBM10_ENST00000329236.7_Missense_Mutation_p.G792C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	870	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGGCCATGGGCTGGAAAGA	0.637000													6	7					2.0095e-06	2.52906e-06	0.001984	1	0
IGF1R	3480	broad.mit.edu	37	15	99251273	99251273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:99251273G>A	ENST00000268035.6	+	2	1188	c.577G>A	c.(577-579)Gag>Aag	p.E193K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E193K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	193					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGATGTGTGAGAAGACCAC	0.517000													5	63					0	0	0.001984	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005196	102005196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:102005196G>T	ENST00000372735.1	+	4	1858	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.G425*			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	425						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCAATCTGGATTAAAGAT	0.383000													21	78					1.2644e-06	1.60659e-06	0.001523	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781554	128781554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:128781554G>T	ENST00000529694.1	+	2	762	c.386G>T	c.(385-387)tGt>tTt	p.C129F	KCNJ5_ENST00000533599.1_Missense_Mutation_p.C129F|KCNJ5_ENST00000338350.4_Missense_Mutation_p.C129F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	129					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGATTCCTTGTGTTGAAAAC	0.502000													42	82					1.52319e-26	2.77782e-26	0.008740	1	0
OR4A16	81327	broad.mit.edu	37	11	55111360	55111360	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55111360G>A	ENST00000314721.2	+	1	734	c.684G>A	c.(682-684)caG>caA	p.Q228Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTACAGTCAGGAAGAGAGGC	0.428000													19	104					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179435842	179435842	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179435842G>A	ENST00000589042.1	-	326	75241	c.75017C>T	c.(75016-75018)cCa>cTa	p.P25006L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22438L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16066L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23365L|TTN_ENST00000342175.6_Missense_Mutation_p.P16133L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15941L|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23365	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATCACATGGGTCACGAGC	0.468000													8	165					0	0	0.003080	0	0
GPX5	2880	broad.mit.edu	37	6	28497230	28497230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:28497230G>T	ENST00000412168.2	+	2	179	c.90G>T	c.(88-90)atG>atT	p.M30I	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.M30I	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	30					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCTTCCAGATGGATTGCCACA	0.368000													29	40					3.86903e-22	6.75804e-22	0.002836	1	0
APLNR	187	broad.mit.edu	37	11	57004438	57004438	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:57004438T>A	ENST00000606794.1	-	1	237	c.41A>T	c.(40-42)gAc>gTc	p.D14V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	14						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGACTGGTTGTCTGCCCCATA	0.582000													27	50					0	0	0.006320	0	0
GPR25	2848	broad.mit.edu	37	1	200843050	200843050	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:200843050G>T	ENST00000304244.2	+	1	968	c.885G>T	c.(883-885)ctG>ctT	p.L295L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	295						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCACCTGCCTGGCCTTCGTCA	0.746000													28	60					8.4185e-14	1.33327e-13	0.002445	1	0
TRPC4	7223	broad.mit.edu	37	13	38320488	38320488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:38320488C>A	ENST00000379705.3	-	3	1340	c.483G>T	c.(481-483)ttG>ttT	p.L161F	TRPC4_ENST00000447043.1_Missense_Mutation_p.L161F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L161F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.L161F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L161F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	161	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTCTGAACCAAGAGTTTTA	0.463000													36	112					3.78316e-11	5.56545e-11	0.006230	1	0
TTN	7273	broad.mit.edu	37	2	179396333	179396333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179396333G>T	ENST00000589042.1	-	358	105233	c.105009C>A	c.(105007-105009)gaC>gaA	p.D35003E	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32435E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26063E|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33362E|TTN_ENST00000342175.6_Missense_Mutation_p.D26130E|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25938E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATGACAGTCCAGAATTT	0.488000													27	45					1.39806e-14	2.25186e-14	0.008361	1	0
ATP13A4	84239	broad.mit.edu	37	3	193176992	193176992	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:193176992C>A	ENST00000342695.4	-	14	1874	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G499C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G518C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	518					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAAGCCTGGCCTGAGGCAAAG	0.532000													11	66					7.03913e-09	9.81032e-09	0.001368	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	8					8.12818e-05	9.6778e-05	0.001984	1	0
TMEM140	55281	broad.mit.edu	37	7	134849484	134849484	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:134849484C>A	ENST00000275767.2	+	2	514	c.291C>A	c.(289-291)gcC>gcA	p.A97A	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	97						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCCTCTTTGCCCCCCAGCCTC	0.677000													16	54					1.52009e-12	2.31333e-12	0.003163	1	0
SLC9A7	84679	broad.mit.edu	37	X	46618330	46618330	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:46618330C>A	ENST00000328306.4	-	1	160	c.135G>T	c.(133-135)ggG>ggT	p.G45G		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	45					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCGCCGCCGCCCCAGAGGAGG	0.736000													10	13					9.31168e-06	1.14579e-05	0.001855	1	0
MUC5AC	4586	broad.mit.edu	37	11	1151661	1151661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:1151661G>A	ENST00000356191.2	+	1	35	c.35G>A	c.(34-36)tGg>tAg	p.W12*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCCCTGCTCTGGGCCCTGGCT	0.677000													3	6					0	0	0.000248	0	0
TMEM145	284339	broad.mit.edu	37	19	42822023	42822023	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:42822023T>A	ENST00000598766.1	+	12	1135	c.1135T>A	c.(1135-1137)Tat>Aat	p.Y379N	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y355N			Q8NBT3	TM145_HUMAN	transmembrane protein 145	355						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTTTGCTGCCTATACCCTCTG	0.582000													30	65					0	0	0.003271	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771079	99771079	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:99771079G>A	ENST00000370597.3	-	2	395	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14S|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14S	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	14						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCAGGAACGGTAACATCCTG	0.512000													16	89					0	0	0.004007	0	0
MRPL2	51069	broad.mit.edu	37	6	43025848	43025848	+	Missense_Mutation	SNP	T	T	A	rs141171843	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:43025848T>A	ENST00000388752.3	-	2	644	c.220A>T	c.(220-222)Att>Ttt	p.I74F	MRPL2_ENST00000230413.5_Missense_Mutation_p.I74F|MRPL2_ENST00000468957.1_Missense_Mutation_p.I74F|MRPL2_ENST00000489623.1_Missense_Mutation_p.I74F|MRPL2_ENST00000487429.1_3'UTR	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	74					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACTGGTGTAATGGTGTACTTG	0.512000													51	102					0	0	0.003610	0	0
MYO9B	4650	broad.mit.edu	37	19	17311621	17311621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:17311621G>T	ENST00000595618.1	+	26	4698	c.4546G>T	c.(4546-4548)Gag>Tag	p.E1516*	MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1516*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1516*	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1516	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTACCTGGACGAGTTCCTGCT	0.557000													13	83					1.5842e-08	2.18033e-08	0.001855	1	0
TCEB3	6924	broad.mit.edu	37	1	24078311	24078311	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:24078311T>A	ENST00000418390.2	+	4	1565	c.1294T>A	c.(1294-1296)Tct>Act	p.S432T		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	432					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCCAACCATGTCTTTTGAATC	0.423000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	239					0	0	0.003271	0	0
UBBP4	23666	broad.mit.edu	37	17	21731494	21731494	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:21731494C>A	ENST00000578713.1	+	2	573	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCCGATCAGCAG	0.542000													18	45					1.99824e-07	2.61429e-07	0.004990	1	0
PAQR9	344838	broad.mit.edu	37	3	142681404	142681404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:142681404G>A	ENST00000340634.3	-	1	774	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	259						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGCTCTCGAGCATAATGGGG	0.617000													26	66					0	0	0.007291	0	0
ZNF200	7752	broad.mit.edu	37	16	3274184	3274184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:3274184T>A	ENST00000431561.3	-	5	1508	c.896A>T	c.(895-897)gAg>gTg	p.E299V	ZNF200_ENST00000414144.2_Missense_Mutation_p.E299V|ZNF200_ENST00000396868.3_Missense_Mutation_p.E298V|ZNF200_ENST00000396870.4_Missense_Mutation_p.E298V|ZNF200_ENST00000396871.4_Missense_Mutation_p.E298V|ZNF200_ENST00000575948.1_Missense_Mutation_p.E298V|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATGAATTCGCTCATGTTTATT	0.413000													26	82					0	0	0.004656	0	0
LTBP2	4053	broad.mit.edu	37	14	75022254	75022254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:75022254C>G	ENST00000261978.4	-	4	1359	c.973G>C	c.(973-975)Gat>Cat	p.D325H	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.D325H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	325					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGGTGCCATCTCTCTGCTCA	0.632000													29	44					0	0	0.002096	0	0
POLA1	5422	broad.mit.edu	37	X	24745975	24745975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:24745975G>T	ENST00000379068.3	+	15	1651	c.1608G>T	c.(1606-1608)aaG>aaT	p.K536N	POLA1_ENST00000379059.3_Missense_Mutation_p.K530N|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	530					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTAATTAAGGATGTCAGTC	0.408000													11	32					1.61879e-10	2.35009e-10	0.001368	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:34008522C>T	ENST00000374181.3	-	6	1341	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H|GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597000													26	36					0	0	0.008361	0	0
GRIN1	2902	broad.mit.edu	37	9	140036576	140036576	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140036576C>G	ENST00000371561.3	+	2	1467	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G	GRIN1_ENST00000371550.4_Missense_Mutation_p.R124G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371553.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371555.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371559.4_Missense_Mutation_p.R124G|GRIN1_ENST00000315048.3_Missense_Mutation_p.R124G|GRIN1_ENST00000350902.5_Missense_Mutation_p.R124G|GRIN1_ENST00000371560.3_Missense_Mutation_p.R124G	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	124					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGACCACCCGCATGTCCAT	0.652000													37	81					0	0	0.004878	0	0
MYH9	4627	broad.mit.edu	37	22	36689452	36689452	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:36689452A>T	ENST00000216181.5	-	30	4248	c.4018T>A	c.(4018-4020)Tcc>Acc	p.S1340T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1340					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCCGGAAGGAATTCTTCTCG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				28	65					0	0	0.008361	0	0
DNAH3	55567	broad.mit.edu	37	16	21033313	21033313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:21033313C>A	ENST00000261383.3	-	40	5755	c.5756G>T	c.(5755-5757)aGa>aTa	p.R1919I	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1919					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGTACAGTCTCATCATTGA	0.453000													19	38					8.10497e-08	1.08175e-07	0.001523	1	0
OR8H3	390152	broad.mit.edu	37	11	55890472	55890472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55890472G>T	ENST00000313472.3	+	1	624	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCACCCTGATGGTGTCCCTTA	0.423000													25	119					4.4004e-07	5.66744e-07	0.003330	1	0
GAA	2548	broad.mit.edu	37	17	78086452	78086452	+	Silent	SNP	C	C	T	rs61736896	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:78086452C>T	ENST00000302262.3	+	13	2049	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	GAA_ENST00000390015.3_Silent_p.A610A	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	610			Missing (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGATACGCCGGCCACTGGA	0.687000													3	32					0	0	0.000248	0	0
GRIN1	2902	broad.mit.edu	37	9	140036578	140036578	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140036578C>G	ENST00000371561.3	+	2	1469	c.372C>G	c.(370-372)cgC>cgG	p.R124R	GRIN1_ENST00000371550.4_Silent_p.R124R|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Silent_p.R124R|GRIN1_ENST00000371553.3_Silent_p.R124R|GRIN1_ENST00000371555.4_Silent_p.R124R|GRIN1_ENST00000371559.4_Silent_p.R124R|GRIN1_ENST00000315048.3_Silent_p.R124R|GRIN1_ENST00000350902.5_Silent_p.R124R|GRIN1_ENST00000371560.3_Silent_p.R124R	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	124					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGACCACCCGCATGTCCATCT	0.647000													35	76					0	0	0.003755	0	0
LILRA4	23547	broad.mit.edu	37	19	54849379	54849379	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:54849379C>G	ENST00000291759.4	-	4	539	c.483G>C	c.(481-483)agG>agC	p.R161S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	161	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCAGGAGAGCCTGTGGTCTC	0.587000													23	25					0	0	0.002780	0	0
ESPNL	339768	broad.mit.edu	37	2	239016463	239016463	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239016463G>T	ENST00000343063.3	+	4	967	c.704G>T	c.(703-705)cGg>cTg	p.R235L	ESPNL_ENST00000409169.1_Missense_Mutation_p.R235L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	235										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTCACGGCACGGGACAATGAG	0.652000													4	7					1.23904e-05	1.51897e-05	0.000602	1	0
SEMA5B	54437	broad.mit.edu	37	3	122631876	122631876	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:122631876T>G	ENST00000195173.4	-	18	2839	c.2536A>C	c.(2536-2538)Acc>Ccc	p.T846P	SEMA5B_ENST00000357599.3_Missense_Mutation_p.T847P|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T901P			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	847					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCGGGGAGGTGCTCCCGCTG	0.771000													6	13					0	0	0.001168	0	0
VSX2	338917	broad.mit.edu	37	14	74726376	74726376	+	Silent	SNP	G	G	T	rs150792267	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:74726376G>T	ENST00000261980.2	+	4	741	c.651G>T	c.(649-651)gcG>gcT	p.A217A		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GTGTCATGGCGGAGTATGGGC	0.627000													17	30					2.94398e-08	4.01012e-08	0.007413	1	0
OR2D2	120776	broad.mit.edu	37	11	6913062	6913062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:6913062T>A	ENST00000299459.2	-	1	768	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGACCACAGTTACTATGATA	0.438000													18	26					0	0	0.007413	0	0
SLC6A13	6540	broad.mit.edu	37	12	333641	333641	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:333641C>A	ENST00000343164.4	-	10	1151	c.1099G>T	c.(1099-1101)Gtg>Ttg	p.V367L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.V275L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	367					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGCATCACCACAGCCCGC	0.622000													10	55					3.86212e-05	4.64859e-05	0.008291	1	0
MUS81	80198	broad.mit.edu	37	11	65631996	65631996	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:65631996G>A	ENST00000308110.4	+	11	1437	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	MUS81_ENST00000533035.1_Missense_Mutation_p.R288H	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	363	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGTCTGGAGCGCCGGGTATAC	0.592000								Homologous recombination					6	44					0	0	0.001168	0	0
TMEM63B	55362	broad.mit.edu	37	6	44119703	44119703	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:44119703C>G	ENST00000259746.9	+	19	1977	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	TMEM63B_ENST00000323267.6_Silent_p.L598L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	598						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGATCCGGCTCTGCCTGGCGC	0.667000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	0.000602	0	0
HERC1	8925	broad.mit.edu	37	15	63978575	63978575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:63978575C>A	ENST00000443617.2	-	34	6295	c.6208G>T	c.(6208-6210)Ggg>Tgg	p.G2070W	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2070	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGATAGCACCCAGAAGTTACT	0.398000													22	147					7.87624e-14	1.25038e-13	0.002780	1	0
FTMT	94033	broad.mit.edu	37	5	121188072	121188072	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:121188072C>A	ENST00000321339.1	+	1	423	c.414C>A	c.(412-414)ggC>ggA	p.G138G		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	138	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGCGAGGAGGCCGGATCCGCC	0.582000													26	29					4.59853e-10	6.61788e-10	0.005443	1	0
OR2L8	391190	broad.mit.edu	37	1	248112950	248112950	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248112950T>C	ENST00000357191.3	+	1	791	c.791T>C	c.(790-792)cTg>cCg	p.L264P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCAAGATCCCTGCGATCTCCA	0.488000													5	126					0	0	0.000602	0	0
SHROOM3	57619	broad.mit.edu	37	4	77663049	77663049	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:77663049G>T	ENST00000296043.6	+	5	4676	c.3723G>T	c.(3721-3723)agG>agT	p.R1241S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1241					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGAGGTCCAGGTCATCTCCCG	0.652000													6	21					1.06961e-07	1.41901e-07	0.003080	1	0
PCDHA6	56142	broad.mit.edu	37	5	140208796	140208796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140208796G>T	ENST00000529310.1	+	1	1234	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V374L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|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)			CCTAATTAGCGTGAACGACCT	0.488000													55	68					7.07328e-35	1.31902e-34	0.003610	1	0
NEMF	9147	broad.mit.edu	37	14	50280705	50280705	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:50280705C>A	ENST00000298310.5	-	18	2194		c.e18+1		NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site|NEMF_ENST00000546046.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor							cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAATATATTACCTGTTGGATT	0.318000													13	18					0.000151284	0.00017884	0.001855	1	0
GRIK1	2897	broad.mit.edu	37	21	30934017	30934017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:30934017G>T	ENST00000399914.1	-	14	2760	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	GRIK1_ENST00000399913.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q762K|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q747K|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q764K|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q762K|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q764K|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q747K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	762					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAGTTTCTCTGCGTCACATAC	0.532000													15	76					4.7546e-09	6.66853e-09	0.004007	1	0
GDF10	2662	broad.mit.edu	37	10	48429282	48429282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:48429282G>T	ENST00000224605.2	-	2	869	c.604C>A	c.(604-606)Cag>Aag	p.Q202K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	202					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCTTGGCCTGCCACAGGCCG	0.721000													4	23					0.00024832	0.000291986	0.000248	1	0
DGCR2	9993	broad.mit.edu	37	22	19044598	19044598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:19044598G>A	ENST00000263196.7	-	6	950	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	DGCR2_ENST00000537045.1_Nonsense_Mutation_p.Q194*|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000473832.1_5'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	235	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACTGAAGCTGGGCACAGAAC	0.567000													5	11					0	0	0.000602	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389380	117389380	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:117389380G>A	ENST00000321322.6	-	7	1492	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	DSCAML1_ENST00000527706.1_Silent_p.P227P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGTGACCGTGGGGGGCGGGG	0.662000													10	27					0	0	0.008291	0	0
SNX31	169166	broad.mit.edu	37	8	101661539	101661539	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:101661539C>T	ENST00000311812.2	-	2	254	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	35	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTAGCGCACCCTGCAGAAGAG	0.607000													9	30					0	0	0.004482	0	0
PNCK	139728	broad.mit.edu	37	X	152937657	152937657	+	Splice_Site	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:152937657T>C	ENST00000393831.2	-	4	635		c.e4-2		PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000340888.3_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000475172.1_Splice_Site	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACTGATCCTGCAATGGCAA	0.617000													4	41					0	0	0.000248	0	0
COQ5	84274	broad.mit.edu	37	12	120966864	120966864	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:120966864G>A	ENST00000288532.6	-	1	121	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COQ5_ENST00000445328.2_Silent_p.L27L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	27					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACGAAGCCCGAGGAGCTGGC	0.637000													9	71					0	0	0.008291	0	0
RFX6	222546	broad.mit.edu	37	6	117232175	117232175	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:117232175T>A	ENST00000332958.2	+	7	766	c.750T>A	c.(748-750)ctT>ctA	p.L250L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	250					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCAACACCTTGTATACCAAG	0.373000													32	50					0	0	0.004878	0	0
NALCN	259232	broad.mit.edu	37	13	101736089	101736089	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:101736089G>C	ENST00000251127.6	-	31	3637	c.3556C>G	c.(3556-3558)Cag>Gag	p.Q1186E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1186						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGAGGCTGTGCGATCTTC	0.498000													14	41					0	0	0.002450	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660446	113660446	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:113660446C>A	ENST00000393544.2	+	0	494																											GGATCCAGCACCACCTGTAGA	0.572000													5	10					0.00116845	0.00133594	0.001168	1	0
SEMA5A	9037	broad.mit.edu	37	5	9122921	9122921	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:9122921A>T	ENST00000382496.5	-	14	2293	c.1628T>A	c.(1627-1629)tTt>tAt	p.F543Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	543	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCACACACCAAAGTGCCCATC	0.547000													19	95					0	0	0.007413	0	0
COL6A1	1291	broad.mit.edu	37	21	47422543	47422543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:47422543G>T	ENST00000361866.3	+	33	2467	c.2353G>T	c.(2353-2355)Ggc>Tgc	p.G785C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	785	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCCGGCCCGGCCTCTCGCT	0.597000													28	76					6.53348e-20	1.13224e-19	0.003755	1	0
C2CD2L	9854	broad.mit.edu	37	11	118984983	118984983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:118984983C>T	ENST00000336702.3	+	13	2179	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S354L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	606						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACAACCCGTTCGGATATTTCT	0.577000													7	179					0	0	0.001984	0	0
SPAG1	6674	broad.mit.edu	37	8	101243392	101243392	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:101243392A>G	ENST00000388798.2	+	15	2055	c.1864A>G	c.(1864-1866)Aca>Gca	p.T622A	SPAG1_ENST00000251809.3_Missense_Mutation_p.T622A|SPAG1_ENST00000523302.1_3'UTR	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	622					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGATGAAAAAACATTTAAAGC	0.303000													19	47					0	0	0.008871	0	0
ROBO1	6091	broad.mit.edu	37	3	78766455	78766455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:78766455C>A	ENST00000436010.2	-	5	1767	c.770G>T	c.(769-771)aGg>aTg	p.R257M	ROBO1_ENST00000495273.1_Missense_Mutation_p.R257M|ROBO1_ENST00000467549.1_Missense_Mutation_p.R257M|ROBO1_ENST00000464233.1_Missense_Mutation_p.R296M			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	296	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCATCTTTCCTCCATCGTAC	0.443000													58	134					1.34159e-35	2.51596e-35	0.003610	1	0
RC3H2	54542	broad.mit.edu	37	9	125620205	125620205	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:125620205C>A	ENST00000373670.1	-	12	3051	c.2451G>T	c.(2449-2451)gcG>gcT	p.A817A	RC3H2_ENST00000357244.2_Silent_p.A817A|RC3H2_ENST00000423239.2_Silent_p.A817A			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	817						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTTACATCCGCACGAAAGT	0.418000													18	34					8.34094e-07	1.06391e-06	0.008871	1	0
AGBL1	123624	broad.mit.edu	37	15	86807859	86807859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:86807859C>A	ENST00000441037.2	+	10	1414	c.1319C>A	c.(1318-1320)aCt>aAt	p.T440N	AGBL1_ENST00000421325.2_Missense_Mutation_p.T440N|AGBL1_ENST00000389298.3_Missense_Mutation_p.T171N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	440					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTAATTCCACTAGGACTAGA	0.458000													21	101					6.44725e-10	9.23827e-10	0.002299	1	0
RGAG1	57529	broad.mit.edu	37	X	109695043	109695043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:109695043G>T	ENST00000465301.2	+	3	1444	c.1198G>T	c.(1198-1200)Gca>Tca	p.A400S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A400S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	400										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGTGATGTCTGCACCACCAGT	0.512000													126	428					2.77834e-61	5.3312e-61	0.003610	1	0
AKAP1	8165	broad.mit.edu	37	17	55183651	55183651	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:55183651C>G	ENST00000337714.3	+	2	1059	c.826C>G	c.(826-828)Cac>Gac	p.H276D	AKAP1_ENST00000572557.1_Missense_Mutation_p.H276D|AKAP1_ENST00000539273.1_Missense_Mutation_p.H276D|AKAP1_ENST00000571629.1_Missense_Mutation_p.H276D|AKAP1_ENST00000314126.3_Missense_Mutation_p.H276D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	276					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGAGTCGGCTCACACAGAGCT	0.582000													22	97					0	0	0.002780	0	0
CRY2	1408	broad.mit.edu	37	11	45880390	45880390	+	Missense_Mutation	SNP	A	A	T	rs145426016		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45880390A>T	ENST00000443527.2	+	3	518	c.496A>T	c.(496-498)Acg>Tcg	p.T166S	CRY2_ENST00000417225.2_Missense_Mutation_p.T84S|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	145	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGAAGTAGTGACGGAGAATTC	0.507000													9	33					0	0	0.001368	0	0
SPG20	23111	broad.mit.edu	37	13	36909680	36909680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:36909680C>A	ENST00000451493.1	-	2	505	c.288G>T	c.(286-288)gaG>gaT	p.E96D	SPG20_ENST00000355182.4_Missense_Mutation_p.E96D|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.E96D|SPG20_ENST00000438666.2_Missense_Mutation_p.E96D	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	96					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAAGACCCTTCTCTAGAATTT	0.448000													23	72					5.35047e-06	6.64543e-06	0.003330	1	0
CDX4	1046	broad.mit.edu	37	X	72667506	72667506	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:72667506G>T	ENST00000373514.2	+	1	417	c.417G>T	c.(415-417)acG>acT	p.T139T		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TTGTCCCGACGGACGCAGGCG	0.657000													15	29					1.3612e-06	1.72298e-06	0.003163	1	0
CNTN1	1272	broad.mit.edu	37	12	41365289	41365289	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:41365289T>A	ENST00000547849.1	+	16	2177	c.1858T>A	c.(1858-1860)Tgt>Agt	p.C620S	CNTN1_ENST00000547702.1_Missense_Mutation_p.C620S|CNTN1_ENST00000360099.3_Missense_Mutation_p.C620S|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTCCCCGTCTGTGCAAGCCT	0.418000													6	35					0	0	0.001168	0	0
AMBN	258	broad.mit.edu	37	4	71467241	71467241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:71467241C>T	ENST00000322937.6	+	6	504	c.401C>T	c.(400-402)aCc>aTc	p.T134I	AMBN_ENST00000449493.2_Missense_Mutation_p.T119I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	134					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.T134I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCTGCAACCACCAACCAGGCC	0.547000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	103					0	0	0.008740	0	0
LRP1B	53353	broad.mit.edu	37	2	141641553	141641553	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141641553C>A	ENST00000389484.3	-	25	4973	c.4002G>T	c.(4000-4002)ctG>ctT	p.L1334L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1334					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGAGTAGCCAGGCCATGCT	0.473000										TSP Lung(27;0.18)			33	105					2.20474e-14	3.53398e-14	0.003755	1	0
DNAH7	56171	broad.mit.edu	37	2	196801370	196801370	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:196801370G>A	ENST00000312428.6	-	20	3325	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1075	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTCATCATTGGACAAAAAAA	0.313000													18	52					0	0	0.008871	0	0
TRPM1	4308	broad.mit.edu	37	15	31362303	31362303	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:31362303G>A	ENST00000542188.1	-	3	574	c.261C>T	c.(259-261)acC>acT	p.T87T	TRPM1_ENST00000559179.1_Silent_p.T48T|TRPM1_ENST00000256552.6_Silent_p.T70T|TRPM1_ENST00000397795.2_Silent_p.T48T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	48					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAGCTCTGGGTGTGCTTGG	0.493000													98	334					0	0	0.003610	0	0
CHST1	8534	broad.mit.edu	37	11	45672284	45672284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45672284G>T	ENST00000308064.2	-	4	860	c.190C>A	c.(190-192)Ctc>Atc	p.L64I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	64					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGATGAGGATGTGGGTC	0.647000													15	63					0.00316338	0.00359204	0.003163	1	0
C17orf70	80233	broad.mit.edu	37	17	79514713	79514713	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:79514713G>A	ENST00000425898.2	-	1	811	c.342C>T	c.(340-342)gtC>gtT	p.V114V	C17orf70_ENST00000327787.8_Intron|C17orf70_ENST00000537152.1_Intron			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	465					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTCTGCGAAGGACAGACATGA	0.592000													28	71					0	0	0.007291	0	0
DPYS	1807	broad.mit.edu	37	8	105405054	105405054	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:105405054T>A	ENST00000351513.2	-	8	1533	c.1401A>T	c.(1399-1401)ccA>ccT	p.P467P	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	467					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCAGCAAATGGTTTTCGAG	0.488000													34	177					0	0	0.003271	0	0
CACHD1	57685	broad.mit.edu	37	1	65047888	65047888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:65047888A>G	ENST00000371073.2	+	3	311	c.311A>G	c.(310-312)aAt>aGt	p.N104S	CACHD1_ENST00000290039.5_Missense_Mutation_p.N53S|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	104					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GATGTGGTCAATCGGAACAAG	0.443000													15	56					0	0	0.003163	0	0
KLHL6	89857	broad.mit.edu	37	3	183217574	183217574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:183217574C>A	ENST00000341319.3	-	4	986	c.951G>T	c.(949-951)caG>caT	p.Q317H		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	317										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACACCTCAGACTGGAACTCAT	0.572000													10	19					1.58986e-06	2.00474e-06	0.008291	1	0
HYDIN	54768	broad.mit.edu	37	16	70986483	70986483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:70986483G>T	ENST00000393567.2	-	41	6522	c.6372C>A	c.(6370-6372)gaC>gaA	p.D2124E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2124										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCCAAGGTGTCAGTGCTCA	0.498000													11	33					3.86212e-05	4.64859e-05	0.008291	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236734	140236734	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140236734C>G	ENST00000307360.5	+	1	1101	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.V367V|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCACCGTCATTGCCCTAA	0.507000													34	61					0	0	0.003271	0	0
RYR2	6262	broad.mit.edu	37	1	237982471	237982471	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:237982471A>G	ENST00000366574.2	+	101	14886	c.14569A>G	c.(14569-14571)Att>Gtt	p.I4857V	RYR2_ENST00000360064.6_Missense_Mutation_p.I4863V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4841V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4857					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTATTGTCATTCTCTTGGC	0.408000													32	100					0	0	0.002836	0	0
CHID1	66005	broad.mit.edu	37	11	883186	883186	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:883186C>T	ENST00000449825.1	-	10	1277	c.921G>A	c.(919-921)gcG>gcA	p.A307A	CHID1_ENST00000429789.2_Silent_p.A276A|CHID1_ENST00000454838.2_Silent_p.A332A|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.A307A|CHID1_ENST00000528581.1_Silent_p.A332A|CHID1_ENST00000336845.5_Silent_p.A332A|CHID1_ENST00000323541.7_Silent_p.A337A|CHID1_ENST00000436108.2_Silent_p.A307A	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	307					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTGGAGGTCGCGTAGTCCA	0.632000													34	104					0	0	0.002445	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786607	50786607	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:50786607G>T	ENST00000263046.4	+	1	169	c.3G>T	c.(1-3)atG>atT	p.M1I	TFAP2B_ENST00000393655.3_Start_Codon_SNP_p.M1I			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	1					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCACATGAATGCACTCACCTC	0.502000													4	34					5.9392e-07	7.63447e-07	0.001168	1	0
NWD1	284434	broad.mit.edu	37	19	16861059	16861059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:16861059C>A	ENST00000524140.2	+	6	2024	c.1606C>A	c.(1606-1608)Ctg>Atg	p.L536M	NWD1_ENST00000549814.1_Missense_Mutation_p.L536M|NWD1_ENST00000552788.1_Missense_Mutation_p.L536M|NWD1_ENST00000523826.1_Missense_Mutation_p.L330M|NWD1_ENST00000379808.3_Missense_Mutation_p.L536M|NWD1_ENST00000339803.6_Missense_Mutation_p.L401M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	536	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGGGCGGCTGAGGCTGGC	0.647000													11	45					6.40141e-05	7.64934e-05	0.000978	1	0
FKBP6	8468	broad.mit.edu	37	7	72744232	72744232	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:72744232C>A	ENST00000252037.4	+	4	414	c.345C>A	c.(343-345)aaC>aaA	p.N115K	FKBP6_ENST00000431982.2_Missense_Mutation_p.N110K|FKBP6_ENST00000413573.2_Missense_Mutation_p.N85K	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	115	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCAAACCGAACTACGCCTATG	0.537000													52	34					1.81118e-26	3.29396e-26	0.003610	1	0
DEPTOR	64798	broad.mit.edu	37	8	121021282	121021282	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:121021282G>T	ENST00000286234.5	+	8	1141	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.A236A	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	337	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGGTGACGCGGTTGGCTGGG	0.542000													7	45					0.000274275	0.000319666	0.004482	1	0
PTPRG	5793	broad.mit.edu	37	3	61547990	61547990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:61547990G>T	ENST00000474889.1	+	1	406	c.29G>T	c.(28-30)tGg>tTg	p.W10L	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Missense_Mutation_p.W10L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	10					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTTGGTGGATTTTGTTC	0.572000													33	68					6.90743e-12	1.03925e-11	0.003755	1	0
OR4D11	219986	broad.mit.edu	37	11	59271633	59271633	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:59271633T>A	ENST00000313253.1	+	1	585	c.585T>A	c.(583-585)ctT>ctA	p.L195L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTTTGCTCTTGAGTTCTTGA	0.488000													59	139					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945713	16945713	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:16945713C>A	ENST00000412962.1	-	0	1806																											CTGAGTGTGCCACTGCAGGTG	0.602000													21	133					6.21321e-17	1.04395e-16	0.002780	1	0
VSIG4	11326	broad.mit.edu	37	X	65242194	65242194	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:65242194C>T	ENST00000374737.4	-	8	1219	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	VSIG4_ENST00000412866.2_Missense_Mutation_p.A277T|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	371					complement activation, alternative pathway	integral to membrane	protein binding	p.A371T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGATCTGGGCGATGATCTGG	0.517000													25	45					0	0	0.003954	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283519	126283519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:126283519G>T	ENST00000526727.1	+	9	1265	c.891G>T	c.(889-891)gaG>gaT	p.E297D	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E293D|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E293D|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E303D|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E286D|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E292D|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E297D|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E296D			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	297					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ACTACTATGAGCAGATCACGC	0.597000													19	68					4.96729e-08	6.67007e-08	0.008871	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361787	105361787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:105361787T>A	ENST00000297581.2	+	2	1056	c.1007T>A	c.(1006-1008)gTt>gAt	p.V336D	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	336					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGGTTTGAGGTTCACTTGAAA	0.488000													36	149					0	0	0.005524	0	0
FAM154A	158297	broad.mit.edu	37	9	18950780	18950780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:18950780G>A	ENST00000380534.4	-	2	473	c.194C>T	c.(193-195)cCa>cTa	p.P65L	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Missense_Mutation_p.P65L|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	65										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GCCTTCCATTGGTATAGGCCC	0.448000													17	107					0	0	0.008871	0	0
ZNF473	25888	broad.mit.edu	37	19	50545052	50545052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:50545052G>A	ENST00000595661.1	+	5	697	c.202G>A	c.(202-204)Gga>Aga	p.G68R	ZNF473_ENST00000270617.3_Missense_Mutation_p.G68R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G68R|ZNF473_ENST00000601364.1_Missense_Mutation_p.G68R|ZNF473_ENST00000445728.3_Missense_Mutation_p.G56R			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	68	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTGGCAGGAGGAAGCCCAGA	0.592000													17	108					0	0	0.006122	0	0
PER2	8864	broad.mit.edu	37	2	239161729	239161729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239161729G>T	ENST00000254657.3	-	19	3214	c.2935C>A	c.(2935-2937)Ccg>Acg	p.P979T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	979	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAAGAGCGGTGGGGAGGCC	0.682000													23	43					1.96895e-08	2.69306e-08	0.002780	1	0
F7	2155	broad.mit.edu	37	13	113768231	113768231	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:113768231C>T	ENST00000375581.3	+	5	422	c.387C>T	c.(385-387)atC>atT	p.I129I	F7_ENST00000541084.1_Silent_p.I60I|F7_ENST00000346342.3_Silent_p.I107I|F7_ENST00000473085.1_3'UTR	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	129	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	p.I129I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTCCTATATCTGCTTCTGCC	0.602000													5	89					0	0	0.001168	0	0
SCN3A	6328	broad.mit.edu	37	2	166019212	166019212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:166019212C>T	ENST00000360093.3	-	8	1312	c.821G>A	c.(820-822)aGg>aAg	p.R274K	SCN3A_ENST00000283254.7_Missense_Mutation_p.R274K|SCN3A_ENST00000409101.3_Missense_Mutation_p.R274K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	274						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACATTTATTCCTCAGATTGCC	0.443000													27	72					0	0	0.005443	0	0
KPNA4	3840	broad.mit.edu	37	3	160239566	160239566	+	Splice_Site	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:160239566C>T	ENST00000334256.4	-	11	1209		c.e11+1			NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACAAACTTACCTGAACTTTA	0.348000													7	78					0	0	0.004482	0	0
GBX1	2636	broad.mit.edu	37	7	150846032	150846032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:150846032C>G	ENST00000297537.4	-	2	735	c.736G>C	c.(736-738)Gag>Cag	p.E246Q		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	246						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCCCCTCCTCAGCTCCA	0.617000													31	158					0	0	0.002096	0	0
ANXA5	308	broad.mit.edu	37	4	122589682	122589682	+	Splice_Site	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:122589682C>T	ENST00000296511.5	-	13	1189	c.903_splice	c.e13-1	p.G302_splice	ANXA5_ENST00000515017.1_Splice_Site_p.G202_splice|ANXA5_ENST00000501272.2_Splice_Site_p.G242_splice	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	302					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATGTATCTCCCTGAAACCAA	0.423000													5	56					0	0	0.003080	0	0
PIGS	94005	broad.mit.edu	37	17	26890891	26890891	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:26890891G>T	ENST00000308360.7	-	4	696	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PIGS_ENST00000543734.1_Silent_p.A46A|PIGS_ENST00000395346.2_Silent_p.A99A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	107					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGATAGGCCTTCTGGA	0.507000													38	108					8.01111e-26	1.449e-25	0.002522	1	0
MMP7	4316	broad.mit.edu	37	11	102395788	102395788	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:102395788C>A	ENST00000260227.4	-	4	544	c.492G>T	c.(490-492)ggG>ggT	p.G164G		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	164					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GGTAGGAGTCCCCATGAGCTG	0.443000													14	28					6.31663e-08	8.44769e-08	0.003163	1	0
CSMD2	114784	broad.mit.edu	37	1	34083126	34083126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:34083126G>T	ENST00000373381.4	-	38	6095	c.5919C>A	c.(5917-5919)ttC>ttA	p.F1973L	CSMD2_ENST00000373377.1_Missense_Mutation_p.F72L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F846L|CSMD2_ENST00000373388.2_Missense_Mutation_p.F72L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1933	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCACACTGGAAAGACACCA	0.587000													8	37					5.18039e-06	6.45842e-06	0.003080	1	0
HM13	81502	broad.mit.edu	37	20	30155996	30155996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:30155996C>T	ENST00000335574.5	+	12	1274	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000398174.3_Missense_Mutation_p.R384C|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	0					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCTGGCCCTCGCCGCCGGCG	0.692000													6	35					0	0	0.001984	0	0
ITIH5	80760	broad.mit.edu	37	10	7618933	7618933	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:7618933G>A	ENST00000256861.6	-	10	1539	c.1461C>T	c.(1459-1461)cgC>cgT	p.R487R	ITIH5_ENST00000397145.2_Silent_p.R487R|ITIH5_ENST00000446830.2_Silent_p.R269R|ITIH5_ENST00000298441.6_Silent_p.R273R|ITIH5_ENST00000397146.2_Silent_p.R487R|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GATAATCGATGCGGATGTCAG	0.592000													8	45					0	0	0.003080	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGAAAGTGCTAAAGTTTTCCA	0.542000													12	18					0	0	0.000978	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801933	24801933	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:24801933A>T	ENST00000395799.3	+	6	2099	c.1970A>T	c.(1969-1971)aAt>aTt	p.N657I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N657I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	657	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTCAGACAAATGAGCAAAGC	0.468000													21	29					0	0	0.002299	0	0
SYN1	6853	broad.mit.edu	37	X	47466576	47466576	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:47466576T>A	ENST00000295987.7	-	2	523	c.399A>T	c.(397-399)aaA>aaT	p.K133N	SYN1_ENST00000340666.4_Missense_Mutation_p.K133N	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	133	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CATGGATCTTTTTCCCTTTGA	0.428000													16	28					0	0	0.004990	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525336	154525336	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:154525336G>A	ENST00000409663.3	+	25	3221	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1058K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E974K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1057						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GAATAAAGAAGAAAACACACT	0.378000													11	57					0	0	0.008291	0	0
LEF1	51176	broad.mit.edu	37	4	109084820	109084820	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:109084820G>T	ENST00000379951.2	-	3	1506	c.318C>A	c.(316-318)ccC>ccA	p.P106P	LEF1_ENST00000512172.1_Silent_p.P38P|LEF1_ENST00000510624.1_Silent_p.P38P|LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000265165.1_Silent_p.P106P	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	106	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCGAGTAGGAGGGTCCCTTGT	0.423000													10	38					2.74318e-10	3.97371e-10	0.006214	1	0
PXDNL	137902	broad.mit.edu	37	8	52387588	52387588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:52387588G>T	ENST00000356297.4	-	7	738	c.638C>A	c.(637-639)cCc>cAc	p.P213H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P213H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	213	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGTCTCCTGGGATATTCGCA	0.498000													6	13					0.00116845	0.00133594	0.001168	1	0
CACNA1B	774	broad.mit.edu	37	9	140878624	140878624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140878624C>A	ENST00000371372.1	+	13	1836	c.1691C>A	c.(1690-1692)gCg>gAg	p.A564E	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A565E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A565E|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A564E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A564E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	564					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGTCTGGGCGGCCATCAAG	0.602000													5	5					0.00116845	0.00133594	0.001168	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178557085	178557085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:178557085C>T	ENST00000251582.7	-	16	2406	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	769	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGCCTGTCTCCAGGTTCTTG	0.567000													12	29					0	0	0.001855	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23695808	23695808	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:23695808C>G	ENST00000335648.3	+	1	80	c.18C>G	c.(16-18)gtC>gtG	p.V6V	ZNF436_ENST00000314011.4_Intron|C1orf213_ENST00000518821.1_Silent_p.V6V|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Silent_p.V6V|C1orf213_ENST00000437367.2_Silent_p.V6V																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGTCCCTGTCCGGTTGAAGG	0.612000													5	53					0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101890140	101890140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:101890140G>A	ENST00000251127.6	-	12	1481	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.P467L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	467						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAGATCTGGGTATACATG	0.323000													16	228					0	0	0.004990	0	0
WDR45	11152	broad.mit.edu	37	X	48933220	48933220	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:48933220G>C	ENST00000356463.3	-	9	1150	c.712C>G	c.(712-714)Cct>Gct	p.P238A	WDR45_ENST00000322995.8_Missense_Mutation_p.P248A|WDR45_ENST00000396681.4_Missense_Mutation_p.P237A|WDR45_ENST00000376368.2_Missense_Mutation_p.P238A|WDR45_ENST00000553851.1_Missense_Mutation_p.P135A|WDR45_ENST00000473974.1_Missense_Mutation_p.P237A|WDR45_ENST00000485908.1_Missense_Mutation_p.P202A|WDR45_ENST00000376358.3_Missense_Mutation_p.P135A|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.P237A	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	237					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGGTGGCAGGGTCAGTGCCT	0.557000													17	40					0	0	0.008871	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253683	123253683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:123253683T>A	ENST00000349780.4	-	13	1563	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.K462*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	462					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGAAGACTCTTGTAACGATTT	0.343000													12	38					0	0	0.000978	0	0
BCORL1	63035	broad.mit.edu	37	X	129148822	129148822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:129148822G>T	ENST00000540052.1	+	3	2118	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	BCORL1_ENST00000218147.7_Nonsense_Mutation_p.E692*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E692*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E692*	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.E692K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCTTTCCCGAGATCGTGAG	0.602000													34	68					4.11147e-13	6.34451e-13	0.003755	1	0
AMER1	139285	broad.mit.edu	37	X	63410715	63410715	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:63410715C>A	ENST00000330258.3	-	2	2724	c.2452G>T	c.(2452-2454)Ggg>Tgg	p.G818W	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTGCCTTCCCCATCCCGTTCC	0.507000													12	38					9.05144e-12	1.35567e-11	0.001855	1	0
RASA3	22821	broad.mit.edu	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:114780772C>T	ENST00000334062.7	-	14	1439	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_ENST00000389544.4_Missense_Mutation_p.A408T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647000													10	81					0	0	0.008291	0	0
ERCC6	2074	broad.mit.edu	37	10	50732561	50732561	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:50732561T>A	ENST00000355832.5	-	5	993	c.915A>T	c.(913-915)ccA>ccT	p.P305P	ERCC6-PGBD3_ENST00000515869.1_Silent_p.P305P|PGBD3_ENST00000603152.1_Silent_p.P305P|ERCC6-PGBD3_ENST00000447839.2_Silent_p.P305P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	305					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCACTGGGGCTGGAGGCGTGA	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)					33	103					0	0	0.002836	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970102	101970102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:101970102C>A	ENST00000543253.1	+	5	1224	c.305C>A	c.(304-306)gCc>gAc	p.A102D	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A102D|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A102D	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAACCGATGCCAGGGCAGTA	0.577000													61	166					8.52622e-23	1.51323e-22	0.003610	1	0
BRINP3	339479	broad.mit.edu	37	1	190067356	190067356	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:190067356G>A	ENST00000367462.3	-	8	2324	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S596L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		698						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAAAAGTGCTGAATCCTGGGA	0.468000													6	100					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559770	44559770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:44559770C>T	ENST00000332567.4	-	1	2218	c.1866G>A	c.(1864-1866)atG>atA	p.M622I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	622	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TATTCGTTGTCATTACTCTCA	0.502000													52	71					0	0	0.003610	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444406	76444406	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:76444406C>G	ENST00000261182.8	-	12	1450	c.964G>C	c.(964-966)Gca>Cca	p.A322P	NAP1L1_ENST00000535020.2_Missense_Mutation_p.A322P|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A322P|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A254P|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A280P|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A322P|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A333P|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A281P|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A259P	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	322					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCGAAGTCTGCAGCAAGGATA	0.348000													17	24					0	0	0.004007	0	0
GSTA1	2938	broad.mit.edu	37	6	52657738	52657738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:52657738G>T	ENST00000334575.5	-	6	617	c.462C>A	c.(460-462)agC>agA	p.S154R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	154	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TGTCAGCCCGGCTCAGCTTGT	0.517000													27	128					1.75199e-13	2.73541e-13	0.007291	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132041	91132041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:91132041G>A	ENST00000373094.1	+	2	1647	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	PCDH11X_ENST00000504220.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V268M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V268M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	268	Cadherin 3.				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						AGGCACTTCAGTGACACAGCT	0.428000													28	55					0	0	0.003610	0	0
LCP1	3936	broad.mit.edu	37	13	46716508	46716508	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:46716508G>A	ENST00000398576.2	-	16	1809	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	LCP1_ENST00000323076.2_Missense_Mutation_p.S474F|LCP1_ENST00000435666.2_Missense_Mutation_p.S43F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	474	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GCCAACCAGGGAGAACTTCGC	0.438000			T	BCL6	NHL								21	47					0	0	0.002299	0	0
WSCD2	9671	broad.mit.edu	37	12	108634140	108634140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:108634140C>A	ENST00000332082.4	+	9	1982	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	WSCD2_ENST00000261400.3_Missense_Mutation_p.D388E|WSCD2_ENST00000549903.1_Missense_Mutation_p.D388E|WSCD2_ENST00000547525.1_Missense_Mutation_p.D388E			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	388						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GTGAGCGGGACCACTGGCGCA	0.622000													11	144					7.93312e-07	1.01385e-06	0.002450	1	0
CLOCK	9575	broad.mit.edu	37	4	56342213	56342213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:56342213C>A	ENST00000309964.4	-	6	515	c.265G>T	c.(265-267)Gca>Tca	p.A89S	CLOCK_ENST00000381322.1_Missense_Mutation_p.A89S|CLOCK_ENST00000513440.1_Missense_Mutation_p.A89S	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	89					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCTGACTGTGCAGTGATTTCT	0.378000													11	33					2.27111e-07	2.9596e-07	0.001368	1	0
SIRPB1	10326	broad.mit.edu	37	20	1559157	1559157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:1559157G>T	ENST00000381605.4	-	2	324	c.260C>A	c.(259-261)cCa>cAa	p.P87Q	SIRPB1_ENST00000262929.5_Missense_Mutation_p.P86Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P87Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P87Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	87	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTTACCCGTGGGAAGTGGCC	0.507000													74	74					7.07328e-35	1.31902e-34	0.003610	1	0
ANK2	287	broad.mit.edu	37	4	114279870	114279870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114279870A>T	ENST00000357077.4	+	38	10149	c.10096A>T	c.(10096-10098)Acc>Tcc	p.T3366S	ANK2_ENST00000264366.6_Missense_Mutation_p.T3333S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3333					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)		AGATCTAGACACCTCTGTCCA	0.463000													35	62					0	0	0.003271	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423683	107423683	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:107423683G>T	ENST00000340010.5	-	9	1270	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SLC26A3_ENST00000422236.2_Silent_p.S327S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	362					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTATTTGAGGGAATAGACGC	0.423000													29	35					1.32181e-22	2.33343e-22	0.007291	1	0
C2orf78	388960	broad.mit.edu	37	2	74041004	74041004	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74041004T>A	ENST00000409561.1	+	2	619	c.498T>A	c.(496-498)taT>taA	p.Y166*		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	166										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCCAGTATTATAAAACTTCAG	0.443000													13	22					0	0	0.001855	0	0
ITGA4	3676	broad.mit.edu	37	2	182358123	182358123	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:182358123G>A	ENST00000397033.2	+	11	1655	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	409					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGTGCAGATGGGATCTCGTC	0.373000													18	34					0	0	0.007413	0	0
EZH1	2145	broad.mit.edu	37	17	40858171	40858171	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:40858171T>C	ENST00000428826.2	-	16	1814	c.1693A>G	c.(1693-1695)Acc>Gcc	p.T565A	EZH1_ENST00000590078.1_Missense_Mutation_p.T495A|EZH1_ENST00000435174.1_Missense_Mutation_p.T426A|EZH1_ENST00000592743.1_Missense_Mutation_p.T565A|EZH1_ENST00000415827.2_Missense_Mutation_p.T556A|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000585893.1_Missense_Mutation_p.T525A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	565	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGCACTGGGTCTTACAGCGA	0.517000													6	101					0	0	0.001984	0	0
CXorf22	170063	broad.mit.edu	37	X	35969947	35969947	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:35969947A>T	ENST00000297866.5	+	6	979	c.913A>T	c.(913-915)Att>Ttt	p.I305F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	305										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGAACAGATATTGCTTTAAA	0.284000													12	52					0	0	0.001368	0	0
ZNF264	9422	broad.mit.edu	37	19	57716786	57716786	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:57716786A>T	ENST00000263095.6	+	3	596	c.182A>T	c.(181-183)gAg>gTg	p.E61V	ZNF264_ENST00000536056.1_Missense_Mutation_p.E61V	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		CCCAAAGCTGAGCTGATCTGC	0.512000													7	21					0	0	0.001984	0	0
LTBP4	8425	broad.mit.edu	37	19	41105444	41105444	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:41105444T>A	ENST00000308370.7	+	3	323	c.323T>A	c.(322-324)cTc>cAc	p.L108H	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L71H|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	108					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGTCCCTCAACTGGCAG	0.637000													18	95					0	0	0.001523	0	0
KPRP	448834	broad.mit.edu	37	1	152733235	152733235	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:152733235T>C	ENST00000368773.1	+	2	1229	c.1171T>C	c.(1171-1173)Tgt>Cgt	p.C391R	KPRP_ENST00000606109.1_Missense_Mutation_p.C391R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	391	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGACCAGTGTCCAGAGTC	0.642000													20	56					0	0	0.001523	0	0
CLEC16A	23274	broad.mit.edu	37	16	11118744	11118744	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:11118744G>C	ENST00000409790.1	+	13	1733	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCTGTTCGTGCTCTGCCTCC	0.547000													9	10					0	0	0.006214	0	0
PDIA2	64714	broad.mit.edu	37	16	335128	335128	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:335128C>G	ENST00000219406.6	+	5	741	c.723C>G	c.(721-723)ggC>ggG	p.G241G	PDIA2_ENST00000404312.1_Silent_p.G238G|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	241					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGGAGCTTGGCCTGGACCTGG	0.662000													9	27					0	0	0.004482	0	0
GSTA5	221357	broad.mit.edu	37	6	52701069	52701069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:52701069G>T	ENST00000370989.1	-	4	395	c.237C>A	c.(235-237)taC>taA	p.Y79*	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Nonsense_Mutation_p.Y79*			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	79	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATAAAGGTTGTATTTGCTGG	0.433000													47	116					2.77807e-22	4.8782e-22	0.003214	1	0
ESPNL	339768	broad.mit.edu	37	2	239016588	239016588	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239016588G>C	ENST00000343063.3	+	4	1092	c.829G>C	c.(829-831)Gac>Cac	p.D277H	ESPNL_ENST00000409169.1_Missense_Mutation_p.D277H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	277										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCCCTCCACGACGCAGCAGA	0.637000													11	27					0	0	0.001368	0	0
IL10RB	3588	broad.mit.edu	37	21	34660564	34660564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:34660564G>C	ENST00000290200.2	+	6	910	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GCACCTGAAAGAGGTAGGTAG	0.493000													15	57					0	0	0.004007	0	0
GP2	2813	broad.mit.edu	37	16	20335250	20335250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:20335250C>A	ENST00000302555.5	-	3	572	c.423G>T	c.(421-423)tgG>tgT	p.W141C	GP2_ENST00000381362.4_Missense_Mutation_p.W141C|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	141						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGTTGCCACTCCAATGGGCAC	0.592000													24	66					5.35356e-11	7.84083e-11	0.002780	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482216	32482216	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:32482216C>T	ENST00000266088.4	+	10	1281	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A217V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	344					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GAAAAAATTGCCTGTGTCGTC	0.448000													28	105					0	0	0.004289	0	0
GORAB	92344	broad.mit.edu	37	1	170521193	170521193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:170521193G>T	ENST00000367763.3	+	5	795	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	259	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GTACATTGCAGCAAAGCTAGA	0.418000													41	99					1.32136e-16	2.19783e-16	0.008740	1	0
TTC21B	79809	broad.mit.edu	37	2	166797562	166797562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:166797562C>A	ENST00000243344.7	-	6	822	c.685G>T	c.(685-687)Gac>Tac	p.D229Y	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	229						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACTGTCTGGTCCCAATCCTGC	0.388000													16	50					9.16793e-09	1.2697e-08	0.004990	1	0
MKRN3	7681	broad.mit.edu	37	15	23811369	23811369	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:23811369C>A	ENST00000314520.3	+	1	916	c.440C>A	c.(439-441)gCg>gAg	p.A147E	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A147V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCACGGCTGCGCACATCGAG	0.632000													7	29					5.18039e-06	6.45842e-06	0.003080	1	0
SPTB	6710	broad.mit.edu	37	14	65239306	65239306	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:65239306C>A	ENST00000389722.3	-	25	5598	c.5545G>T	c.(5545-5547)Ggt>Tgt	p.G1849C	SPTB_ENST00000556626.1_Missense_Mutation_p.G1849C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1849C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1849C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1849C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1849					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTGGACACCCAGCAGGTGG	0.667000													13	12					3.27435e-08	4.44185e-08	0.002450	1	0
IDS	3423	broad.mit.edu	37	X	148564645	148564645	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:148564645C>T	ENST00000340855.6	-	9	1494	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.V218I|IDS_ENST00000537071.1_Missense_Mutation_p.V32I	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	429						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACAGCTCAACGTGAAATGAA	0.527000													52	90					0	0	0.003610	0	0
SLC6A14	11254	broad.mit.edu	37	X	115572134	115572134	+	Splice_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:115572134G>T	ENST00000371900.4	+	3	303	c.214_splice	c.e3-1	p.G72_splice		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	72					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CCTTTTTTAGGCGCCTTCTTG	0.403000													90	316					1.15966e-41	2.19341e-41	0.003610	1	0
TFIP11	24144	broad.mit.edu	37	22	26895444	26895444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:26895444C>T	ENST00000407690.1	-	9	1238	c.955G>A	c.(955-957)Gag>Aag	p.E319K	TFIP11_ENST00000407148.1_Missense_Mutation_p.E319K|TFIP11_ENST00000407431.1_Missense_Mutation_p.E319K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E319K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	319					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCTCCAGCTCGGGCAGCGCG	0.612000													16	90					0	0	0.004007	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849423	171849423	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:171849423G>A	ENST00000311601.5	-	2	323	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SH3PXD2B_ENST00000519643.1_Silent_p.L51L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	51	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTACCTGGAGGTCAAAAA	0.488000													7	18					0	0	0.001984	0	0
FOXO4	4303	broad.mit.edu	37	X	70321242	70321242	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:70321242C>A	ENST00000374259.3	+	2	1494	c.1162C>A	c.(1162-1164)Ccc>Acc	p.P388T	FOXO4_ENST00000341558.3_Missense_Mutation_p.P333T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	388					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCAGGTAGATCCCATTCTGTC	0.637000													21	67					5.26018e-13	8.09823e-13	0.001882	1	0
GPI	2821	broad.mit.edu	37	19	34859521	34859521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:34859521C>T	ENST00000415930.3	+	5	603	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	GPI_ENST00000356487.5_Missense_Mutation_p.R106W|GPI_ENST00000586425.1_Missense_Mutation_p.R106W	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	106					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCTGCGGAACCGGTCAAACAC	0.582000													5	55					0	0	0.001168	0	0
INPP1	3628	broad.mit.edu	37	2	191233942	191233942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:191233942G>T	ENST00000392329.2	+	6	1280	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	INPP1_ENST00000541441.1_Missense_Mutation_p.G194W|INPP1_ENST00000322522.4_Missense_Mutation_p.G194W	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	194					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CATACAGACAGGGGTTCCCCT	0.408000													38	84					3.43241e-23	6.10822e-23	0.002222	1	0
PRPF8	10594	broad.mit.edu	37	17	1554421	1554421	+	Silent	SNP	C	C	A	rs147050234		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:1554421C>A	ENST00000572621.1	-	41	7099	c.6834G>T	c.(6832-6834)tcG>tcT	p.S2278S	PRPF8_ENST00000304992.6_Silent_p.S2278S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2278						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTAGTTCCACGAGGACTGGG	0.577000													15	20					1.3612e-06	1.72298e-06	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179576905	179576905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179576905C>A	ENST00000589042.1	-	96	27876	c.27652G>T	c.(27652-27654)Gtt>Ttt	p.V9218F	TTN_ENST00000342992.6_Missense_Mutation_p.V7974F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8901F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8901	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCCAACAGACACCTTA	0.458000													24	78					5.35047e-06	6.64543e-06	0.003330	1	0
EPHB1	2047	broad.mit.edu	37	3	134670615	134670615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:134670615G>T	ENST00000398015.3	+	3	896	c.526G>T	c.(526-528)Gct>Tct	p.A176S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	176						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A176T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTTTACCTCGCTTTTCAGGA	0.463000													40	227					2.37825e-27	4.36122e-27	0.002522	1	0
TTF1	7270	broad.mit.edu	37	9	135267523	135267523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:135267523C>A	ENST00000334270.2	-	6	1966	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	643	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCATCTCACCAATCGTCTTC	0.488000													15	23					1.49906e-05	1.83095e-05	0.002450	1	0
EPHA6	285220	broad.mit.edu	37	3	96706376	96706376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:96706376C>T	ENST00000389672.5	+	3	691	c.653C>T	c.(652-654)aCa>aTa	p.T218I	EPHA6_ENST00000470610.2_Missense_Mutation_p.T218I|EPHA6_ENST00000542517.1_Missense_Mutation_p.T124I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	123						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAAAGAAACATTTAATCTG	0.393000													45	106					0	0	0.008740	0	0
AMBRA1	55626	broad.mit.edu	37	11	46430094	46430094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:46430094C>A	ENST00000458649.2	-	17	3790	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1034D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1064D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1064D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1005D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1095D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1124					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTCCCTGGCTCCGGCACCT	0.637000													19	24					1.55795e-14	2.5033e-14	0.001882	1	0
ARHGAP4	393	broad.mit.edu	37	X	153186130	153186130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153186130C>T	ENST00000370028.3	-	5	688	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G211R|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G190R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G188R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	211					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGGGCCCTGCCTCAGTG	0.692000													27	76					0	0	0.005443	0	0
CNTN4	152330	broad.mit.edu	37	3	2787225	2787225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:2787225G>T	ENST00000397461.1	+	5	586	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	CNTN4_ENST00000418658.1_Missense_Mutation_p.D68Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.D68Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	68	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAATGGAACAGATGTTGACAC	0.348000													13	66					1.49906e-05	1.83095e-05	0.002450	1	0
KLHL4	56062	broad.mit.edu	37	X	86872999	86872999	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:86872999G>T	ENST00000373119.4	+	4	937	c.792G>T	c.(790-792)ctG>ctT	p.L264L	KLHL4_ENST00000373114.4_Silent_p.L264L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	264						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTCTGCAGCTGACTCAGGTCA	0.418000													16	52					0.00074312	0.000855557	0.006122	1	0
RBM44	375316	broad.mit.edu	37	2	238725983	238725983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238725983G>A	ENST00000316997.4	+	3	556	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RBM44_ENST00000409864.1_Missense_Mutation_p.E142K|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	141							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GCAGAAAAAAGAGGAGGTTTT	0.308000													8	9					0	0	0.003080	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852534	31852534	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31852534G>T	ENST00000390689.2	-	1	129	c.103C>A	c.(103-105)Cgg>Agg	p.R35R		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	35	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAGAACCCCGTCTGCAGAAG	0.587000													78	240					4.00405e-42	7.59507e-42	0.003610	1	0
SSPO	23145	broad.mit.edu	37	7	149515769	149515769	+	RNA	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:149515769C>T	ENST00000378016.2	+	0	11670							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCTGGTCCCCCTGCTCCA	0.682000													14	39					0	0	0.003163	0	0
FOXI1	2299	broad.mit.edu	37	5	169535566	169535566	+	Missense_Mutation	SNP	G	G	T	rs150705492	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:169535566G>T	ENST00000449804.2	+	2	848	c.803G>T	c.(802-804)aGt>aTt	p.S268I	FOXI1_ENST00000306268.6_Missense_Mutation_p.S363I	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	363					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTACAACAGTGTCAACACC	0.572000									Pendred syndrome				31	36					2.46105e-21	4.27616e-21	0.002096	1	0
NGF	4803	broad.mit.edu	37	1	115829133	115829133	+	Missense_Mutation	SNP	C	C	A	rs150136942	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:115829133C>A	ENST00000369512.2	-	3	452	c.284G>T	c.(283-285)cGt>cTt	p.R95L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	95					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.R95H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGCAGCTTCACGGGGAGGCTG	0.602000													17	37					1.02788e-11	1.53257e-11	0.004990	1	0
POLD2	5425	broad.mit.edu	37	7	44156578	44156578	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:44156578G>A	ENST00000406581.2	-	7	1267	c.618C>T	c.(616-618)ggC>ggT	p.G206G	POLD2_ENST00000452185.1_Silent_p.G206G|POLD2_ENST00000223361.3_Silent_p.G206G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	206					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CGCCTCCACCGCCACCCAGGC	0.692000													20	20					0	0	0.001523	0	0
BAI2	576	broad.mit.edu	37	1	32196416	32196416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:32196416C>A	ENST00000373658.3	-	29	4706	c.4365G>T	c.(4363-4365)aaG>aaT	p.K1455N	BAI2_ENST00000373655.2_Missense_Mutation_p.K1455N|BAI2_ENST00000257070.4_Missense_Mutation_p.K1422N|BAI2_ENST00000398556.3_Missense_Mutation_p.K1370N|BAI2_ENST00000527361.1_Missense_Mutation_p.K1422N|BAI2_ENST00000440175.2_Missense_Mutation_p.K1064N|BAI2_ENST00000398538.1_Missense_Mutation_p.K1443N|BAI2_ENST00000398542.1_Missense_Mutation_p.K1355N|BAI2_ENST00000398547.1_Missense_Mutation_p.K1388N|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1455					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGAGCCCATCTTCATGGTAG	0.672000													29	66					3.69857e-22	6.47738e-22	0.008361	1	0
DNAH8	1769	broad.mit.edu	37	6	38783335	38783335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:38783335G>T	ENST00000359357.3	+	24	3028	c.2774G>T	c.(2773-2775)gGg>gTg	p.G925V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G1142V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G925V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTCACTGGGGGCAACAGCAA	0.488000													16	24					4.7546e-09	6.66853e-09	0.004007	1	0
PRDM9	56979	broad.mit.edu	37	5	23522775	23522775	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:23522775C>A	ENST00000296682.3	+	8	845	c.663C>A	c.(661-663)ccC>ccA	p.P221P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	221					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCATGGGCCCCCTACATTTG	0.532000										HNSCC(3;0.000094)			16	46					2.23348e-06	2.80563e-06	0.004007	1	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													5	27					0	0	0.003080	0	0
FRAS1	80144	broad.mit.edu	37	4	79455609	79455609	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:79455609G>A	ENST00000264895.6	+	71	11372	c.10932G>A	c.(10930-10932)ctG>ctA	p.L3644L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3639					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTAGATTCCTGATACCCATTG	0.468000													9	132					0	0	0.000978	0	0
HUWE1	10075	broad.mit.edu	37	X	53577916	53577916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:53577916G>C	ENST00000342160.3	-	64	9788	c.9331C>G	c.(9331-9333)Cgt>Ggt	p.R3111G	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3111G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3111					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAAACAGACGCTCATGCATG	0.582000													6	60					0	0	0.001168	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641844	106641844	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:106641844C>A	ENST00000390605.2	-	0	128																											CCAGACTGCACCAGCTGAACC	0.582000													35	53					1.836e-18	3.12451e-18	0.003755	1	0
DOCK9	23348	broad.mit.edu	37	13	99549811	99549811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:99549811G>A	ENST00000376460.1	-	15	1720	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	DOCK9_ENST00000339416.2_Missense_Mutation_p.A548V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A559V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A547V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	548					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGTAGATGGCAGAAAATCT	0.398000													57	198					0	0	0.003610	0	0
TXNDC12	51060	broad.mit.edu	37	1	52489195	52489195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:52489195C>A	ENST00000371626.4	-	6	1481	c.407G>T	c.(406-408)aGc>aTc	p.S136I	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	209	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATACTTGTAGCTGGGGTTTCC	0.418000													27	55					8.16721e-17	1.36189e-16	0.002096	1	0
IQGAP3	128239	broad.mit.edu	37	1	156507066	156507066	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:156507066T>A	ENST00000361170.2	-	27	3339	c.3329A>T	c.(3328-3330)gAg>gTg	p.E1110V	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1110	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTGGACCTCGGGGTGGCT	0.557000													26	49					0	0	0.003954	0	0
SNAP91	9892	broad.mit.edu	37	6	84375238	84375238	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:84375238C>T	ENST00000428679.2	-	3	786	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SNAP91_ENST00000521743.1_Missense_Mutation_p.E65K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E65K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E65K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E65K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E65K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E65K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E65K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E65K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	65	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGCCCGCTCAAAGAGAGTG	0.383000													26	140					0	0	0.003330	0	0
COG6	57511	broad.mit.edu	37	13	40233511	40233511	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:40233511A>T	ENST00000416691.1	+	2	264	c.164A>T	c.(163-165)gAa>gTa	p.E55V	COG6_ENST00000455146.3_Missense_Mutation_p.E55V	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	55					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GAGATGTTAGAAGCTCTCAAG	0.323000													6	26					0	0	0.001168	0	0
ACSL5	51703	broad.mit.edu	37	10	114181795	114181795	+	Splice_Site	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:114181795T>A	ENST00000393081.1	+	16	1783		c.e16+2		ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000369410.3_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAAGGAGAGGTGGGTAGGTCA	0.458000													5	62					0	0	0.000602	0	0
GPR50	9248	broad.mit.edu	37	X	150349293	150349293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:150349293C>A	ENST00000218316.3	+	2	1307	c.1238C>A	c.(1237-1239)gCt>gAt	p.A413D		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	413	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCAAGGCTGCCTCTGGT	0.582000													125	354					2.91419e-48	5.55963e-48	0.003610	1	0
HAUS2	55142	broad.mit.edu	37	15	42850469	42850469	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:42850469T>G	ENST00000260372.3	+	2	230	c.167T>G	c.(166-168)aTt>aGt	p.I56S	HAUS2_ENST00000568846.2_Intron|HAUS2_ENST00000568876.1_Intron	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	56					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						ATCACAAATATTCAAGCTGAA	0.333000													6	15					0	0	0.004482	0	0
OR4K17	390436	broad.mit.edu	37	14	20586569	20586569	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:20586569C>A	ENST00000315543.4	+	1	1004	c.1004C>A	c.(1003-1005)gCt>gAt	p.A335D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTGGAGAGCTTTTGTGAAT	0.378000													13	15					1.05317e-09	1.49935e-09	0.002450	1	0
ITGA9	3680	broad.mit.edu	37	3	37536029	37536029	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:37536029C>T	ENST00000264741.5	+	5	838	c.582C>T	c.(580-582)tgC>tgT	p.C194C	ITGA9_ENST00000422441.1_Silent_p.C194C	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	194					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACGGCTCCTGCCAGGCTGGGA	0.522000													12	27					0	0	0.001368	0	0
COLEC12	81035	broad.mit.edu	37	18	346601	346601	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:346601T>A	ENST00000400256.3	-	5	1228	c.1021A>T	c.(1021-1023)Acg>Tcg	p.T341S		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	341					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACAATATCCGTCTCAAAGAGC	0.473000													22	26					0	0	0.001882	0	0
NWD1	284434	broad.mit.edu	37	19	16874727	16874727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:16874727G>T	ENST00000524140.2	+	9	2640	c.2222G>T	c.(2221-2223)cGc>cTc	p.R741L	NWD1_ENST00000549814.1_Missense_Mutation_p.R741L|NWD1_ENST00000552788.1_Missense_Mutation_p.R741L|NWD1_ENST00000523826.1_Missense_Mutation_p.R535L|NWD1_ENST00000379808.3_Missense_Mutation_p.R741L|NWD1_ENST00000339803.6_Missense_Mutation_p.R606L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	741							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACTCGGGCCGCCTGGAGGAG	0.617000													21	32					1.2644e-06	1.60659e-06	0.001523	1	0
ARMC3	219681	broad.mit.edu	37	10	23326202	23326202	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:23326202C>G	ENST00000298032.5	+	19	2497	c.2413C>G	c.(2413-2415)Ctg>Gtg	p.L805V	ARMC3_ENST00000409983.3_Missense_Mutation_p.L798V|ARMC3_ENST00000376528.4_Missense_Mutation_p.L542V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	805							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGCAGGCTCTGGCTGATAG	0.493000													10	43					0	0	0.001855	0	0
COL6A2	1292	broad.mit.edu	37	21	47545884	47545884	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:47545884C>A	ENST00000300527.4	+	26	2259	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	COL6A2_ENST00000409416.1_Silent_p.R719R|COL6A2_ENST00000397763.1_Silent_p.R719R|COL6A2_ENST00000310645.5_Silent_p.R719R|COL6A2_ENST00000357838.4_Silent_p.R719R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	719	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAAGGAGAGCCGGCGCCAGAA	0.637000													14	52					4.36969e-10	6.30226e-10	0.001855	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853136	53853136	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:53853136T>C	ENST00000331251.3	+	1	2146	c.669T>C	c.(667-669)taT>taC	p.Y223Y		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	223					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GTGTCCTCTATACCACCCTGC	0.662000													7	13					0	0	0.001984	0	0
ABTB2	25841	broad.mit.edu	37	11	34218979	34218979	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:34218979C>A	ENST00000435224.2	-	3	1561	c.1137G>T	c.(1135-1137)tgG>tgT	p.W379C	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.W193C	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	193							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGTCGGGGGACCAAGTGATGG	0.662000													8	39					0.00307968	0.003503	0.003080	1	0
ANO1	55107	broad.mit.edu	37	11	69970497	69970497	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:69970497G>C	ENST00000355303.5	+	9	1244	c.939G>C	c.(937-939)aaG>aaC	p.K313N	ANO1_ENST00000398543.2_Missense_Mutation_p.K197N|ANO1_ENST00000538023.1_Missense_Mutation_p.K313N|ANO1_ENST00000531349.1_Missense_Mutation_p.K48N|ANO1_ENST00000530676.1_Missense_Mutation_p.K197N|ANO1_ENST00000316296.5_Missense_Mutation_p.K285N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	313					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTTTCTATAAGTACCAGCCCA	0.572000													8	28					0	0	0.006214	0	0
ZNF317	57693	broad.mit.edu	37	19	9269521	9269521	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:9269521A>T	ENST00000247956.6	+	6	710	c.405A>T	c.(403-405)aaA>aaT	p.K135N	ZNF317_ENST00000360385.3_Missense_Mutation_p.K103N	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CTCCATCTAAAACCAAGTGGT	0.413000													4	26					0	0	0.000248	0	0
AQR	9716	broad.mit.edu	37	15	35174838	35174838	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:35174838T>A	ENST00000156471.5	-	27	3255	c.3030A>T	c.(3028-3030)gaA>gaT	p.E1010D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1010						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGCTCTGAATTCCTATGGAA	0.378000													7	30					0	0	0.004482	0	0
OR2W5	441932	broad.mit.edu	37	1	247654603	247654603	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:247654603C>A	ENST00000522351.1	+	0	234							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCACACACCCATGTACTTCT	0.498000													18	56					2.35188e-11	3.49091e-11	0.006122	1	0
FSHR	2492	broad.mit.edu	37	2	49190511	49190511	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:49190511G>C	ENST00000406846.2	-	10	1568	c.1449C>G	c.(1447-1449)ctC>ctG	p.L483L	FSHR_ENST00000304421.4_Silent_p.L457L|FSHR_ENST00000346173.3_Silent_p.L421L|FSHR_ENST00000541117.1_Silent_p.L219L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	483					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGCATGGCGGAGCTGCACCT	0.522000									Gonadal Dysgenesis, 46 XX				10	27					0	0	0.006214	0	0
TRPM7	54822	broad.mit.edu	37	15	50886737	50886737	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:50886737A>T	ENST00000313478.7	-	24	3645	c.3364T>A	c.(3364-3366)Tat>Aat	p.Y1122N	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1122N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1122					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTCATGATAAGCCATAATA	0.323000													10	49					0	0	0.006214	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459340	92459340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:92459340G>T	ENST00000318445.6	+	2	512	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G100W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	100					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GAGCTACTTCGGGGCACGCGG	0.672000													10	37					7.48243e-07	9.58098e-07	0.006214	1	0
BBS2	583	broad.mit.edu	37	16	56545071	56545071	+	Splice_Site	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:56545071C>G	ENST00000245157.5	-	3	891	c.471_splice	c.e3+1	p.T157_splice	BBS2_ENST00000568104.1_Splice_Site_p.T157_splice|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	157					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTCTTCATACCGTCCAAAAGA	0.363000									Bardet-Biedl syndrome				19	30					0	0	0.001523	0	0
RBM44	375316	broad.mit.edu	37	2	238726838	238726838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238726838G>T	ENST00000316997.4	+	3	1411	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y	RBM44_ENST00000409864.1_Missense_Mutation_p.D427Y|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	426							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GGCAATAGAAGATAATACGTC	0.383000													23	31					6.44725e-10	9.23827e-10	0.002299	1	0
RNF34	80196	broad.mit.edu	37	12	121855448	121855448	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:121855448C>G	ENST00000361234.5	+	3	539	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V	RNF34_ENST00000392464.2_Missense_Mutation_p.L123V|RNF34_ENST00000392465.3_Missense_Mutation_p.L124V|RNF34_ENST00000555076.1_Intron	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	123	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GGTGAAGGACCTGCGGCAGTA	0.433000													16	54					0	0	0.003163	0	0
KMO	8564	broad.mit.edu	37	1	241729848	241729848	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:241729848A>T	ENST00000366559.4	+	9	1056	c.745A>T	c.(745-747)Acc>Tcc	p.T249S	KMO_ENST00000366557.4_Missense_Mutation_p.T249S|KMO_ENST00000366558.3_Missense_Mutation_p.T249S	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	249					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAAACTTCTAACCAGTAATGA	0.403000													23	67					0	0	0.001882	0	0
MYL3	4634	broad.mit.edu	37	3	46899892	46899892	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:46899892C>T	ENST00000395869.1	-	5	592	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	MYL3_ENST00000292327.4_Missense_Mutation_p.G181S			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	181	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TTGATGCAGCCATTGGAGTCC	0.607000													12	46					0	0	0.000978	0	0
WRN	7486	broad.mit.edu	37	8	30973963	30973963	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:30973963A>T	ENST00000298139.5	+	20	2616	c.2367A>T	c.(2365-2367)ctA>ctT	p.L789L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	789	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACTGAATCTATCCTGTGGAA	0.388000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	42					0	0	0.003163	0	0
NARG2	79664	broad.mit.edu	37	15	60760341	60760341	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:60760341C>A	ENST00000261520.4	-	4	561	c.327G>T	c.(325-327)gtG>gtT	p.V109V	NARG2_ENST00000561114.1_Silent_p.V109V|NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	109						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCAACAAGTCCACATAACTCC	0.368000													9	27					3.09899e-07	4.00689e-07	0.004482	1	0
CSF2RB	1439	broad.mit.edu	37	22	37325452	37325452	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:37325452C>G	ENST00000262825.5	+	5	617	c.400C>G	c.(400-402)Cct>Gct	p.P134A	CSF2RB_ENST00000536485.1_Missense_Mutation_p.P75A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P134A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P134A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	134	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGTCCAGCCTCCTGAGCCCAG	0.652000													23	131					0	0	0.003954	0	0
TBX4	9496	broad.mit.edu	37	17	59556073	59556073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:59556073C>A	ENST00000393853.4	+	6	798	c.635C>A	c.(634-636)aCt>aAt	p.T212N	TBX4_ENST00000240335.1_Missense_Mutation_p.T212N|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	212					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCAAAAACACTGCTTTCTGC	0.537000													28	127					1.75199e-13	2.73541e-13	0.007291	1	0
TNR	7143	broad.mit.edu	37	1	175332844	175332844	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:175332844C>A	ENST00000367674.1	-	13	3415	c.2707_splice	c.e13+1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTTTGTTACCTTGGGTGGGT	0.448000													21	56					9.95505e-16	1.62722e-15	0.002299	1	0
MMP17	4326	broad.mit.edu	37	12	132335517	132335517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:132335517G>T	ENST00000360564.1	+	10	1612	c.1510G>T	c.(1510-1512)Ggc>Tgc	p.G504C	MMP17_ENST00000535291.1_Missense_Mutation_p.G420C|MMP17_ENST00000535004.1_Missense_Mutation_p.G44C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	504	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		AGTGCTGGATGGCGAGCTGGA	0.652000													7	18					0.00621372	0.00700763	0.006214	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058942	79058942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:79058942G>C	ENST00000388820.4	-	19	3521	c.3311C>G	c.(3310-3312)gCg>gGg	p.A1104G		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					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						CGTGGAGGGCGCAGCAGGATG	0.677000													4	27					0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141660631	141660631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141660631G>T	ENST00000389484.3	-	23	4595	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1208					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTTTTATTGTCTTTGTTGA	0.428000										TSP Lung(27;0.18)			14	49					1.52009e-12	2.31333e-12	0.003163	1	0
ABCA6	23460	broad.mit.edu	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:67108373C>T	ENST00000284425.2	-	16	2257	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	695	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368000													49	183					0	0	0.003610	0	0
CACNA1F	778	broad.mit.edu	37	X	49068426	49068426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:49068426C>A	ENST00000376265.2	-	35	4126	c.4065G>T	c.(4063-4065)caG>caT	p.Q1355H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1344H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1290H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1355					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGTGCCATCCTGAAGAGCCA	0.517000													24	49					7.41945e-09	1.0297e-08	0.005443	1	0
EXOC6B	23233	broad.mit.edu	37	2	72742214	72742214	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:72742214C>T	ENST00000272427.6	-	9	1087	c.957G>A	c.(955-957)agG>agA	p.R319R	EXOC6B_ENST00000410104.1_Silent_p.R319R	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	319					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CCTGTTTTCGCCTCTGTTTTC	0.378000													4	18					0	0	0.000248	0	0
MKI67	4288	broad.mit.edu	37	10	129913899	129913899	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:129913899A>T	ENST00000368654.3	-	7	1148	c.773T>A	c.(772-774)cTa>cAa	p.L258Q	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	258					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACAATACTGTAGGACATTTTC	0.378000													6	18					0	0	0.001168	0	0
CTNND2	1501	broad.mit.edu	37	5	11022887	11022887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:11022887C>A	ENST00000304623.8	-	17	3182	c.2993G>T	c.(2992-2994)gGa>gTa	p.G998V	CTNND2_ENST00000359640.2_Missense_Mutation_p.G940V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G661V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G907V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	998					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTACTTATCTCCTTTGCTTTT	0.483000													30	47					2.80507e-11	4.14499e-11	0.002445	1	0
CKAP5	9793	broad.mit.edu	37	11	46839864	46839864	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:46839864C>A	ENST00000529230.1	-	3	294	c.248G>T	c.(247-249)gGa>gTa	p.G83V	CKAP5_ENST00000415402.1_Missense_Mutation_p.G83V|CKAP5_ENST00000354558.3_Missense_Mutation_p.G83V|CKAP5_ENST00000312055.5_Missense_Mutation_p.G83V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	83					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACTTACTTTCCTGCTACATG	0.338000													9	69					0.00448238	0.00507237	0.004482	1	0
FAM199X	139231	broad.mit.edu	37	X	103431193	103431193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:103431193G>T	ENST00000493442.1	+	4	786	c.620G>T	c.(619-621)cGg>cTg	p.R207L	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ATGGGTCTTCGGGAGCAACTT	0.353000													34	58					9.17885e-22	1.59905e-21	0.003271	1	0
HOXB3	3213	broad.mit.edu	37	17	46627892	46627892	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:46627892C>A	ENST00000470495.1	-	2	2547	c.1100G>T	c.(1099-1101)gGc>gTc	p.G367V	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G367V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.G367V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G294V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G235V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G367V|HOXB3_ENST00000460160.1_Missense_Mutation_p.G235V|HOXB3_ENST00000490677.1_Missense_Mutation_p.G233V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G294V			P14651	HXB3_HUMAN	homeobox B3	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GAGGGAGGGGCCGGCAGGGGG	0.716000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	29					1.5739e-10	2.28993e-10	0.004007	1	0
ANK2	287	broad.mit.edu	37	4	114286264	114286264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114286264C>A	ENST00000357077.4	+	41	11011	c.10958C>A	c.(10957-10959)aCa>aAa	p.T3653K	ANK2_ENST00000264366.6_Missense_Mutation_p.T3620K|ANK2_ENST00000394537.3_Missense_Mutation_p.T1568K|ANK2_ENST00000509550.1_Missense_Mutation_p.T744K|ANK2_ENST00000510275.2_Missense_Mutation_p.T220K|ANK2_ENST00000506722.1_Missense_Mutation_p.T1559K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3620					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3653K(1)		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)		GAGACCAACACAGAACCTCTC	0.413000													12	59					7.03913e-09	9.81032e-09	0.001368	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	C	A	rs139135884	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:57947582C>A	ENST00000335397.3	+	3	982	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000													34	93					4.39465e-27	8.03662e-27	0.002836	1	0
ZNF99	7652	broad.mit.edu	37	19	22952090	22952090	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:22952090C>G	ENST00000397104.3	-	2	102	c.103G>C	c.(103-105)Gct>Cct	p.A35P	ZNF99_ENST00000596209.1_Missense_Mutation_p.A14P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCTCCAGAGCGAATTCTATG	0.408000													28	56					0	0	0.006320	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739806	91739806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:91739806G>T	ENST00000389857.6	-	30	5336	c.5250C>A	c.(5248-5250)taC>taA	p.Y1750*	CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.Y274*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1750					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGGCTTTACGTACTGCCCGG	0.667000													9	10					1.76689e-08	2.42171e-08	0.006214	1	0
DOCK2	1794	broad.mit.edu	37	5	169145670	169145670	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:169145670G>T	ENST00000256935.8	+	22	2222	c.2142G>T	c.(2140-2142)atG>atT	p.M714I	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M206I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	714					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTGATGACAGTGCTGA	0.368000													17	17					1.99824e-07	2.61429e-07	0.004990	1	0
DMD	1756	broad.mit.edu	37	X	32407680	32407680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:32407680G>A	ENST00000357033.4	-	32	4662	c.4456C>T	c.(4456-4458)Cct>Tct	p.P1486S	DMD_ENST00000378677.2_Missense_Mutation_p.P1482S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1486	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCAATGCAGGCAAGTGCATC	0.413000													23	54					0	0	0.002780	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:79059831T>A	ENST00000388820.4	-	18	2959	c.2749A>T	c.(2749-2751)Agc>Tgc	p.S917C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	917	TSP type-1 3.				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						TCCAGGGCGCTCTGCTCATCC	0.701000													8	13					0	0	0.003080	0	0
PTPRC	5788	broad.mit.edu	37	1	198703530	198703530	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:198703530C>A	ENST00000367376.2	+	22	2418	c.2247C>A	c.(2245-2247)gtC>gtA	p.V749V	PTPRC_ENST00000348564.6_Silent_p.V590V|PTPRC_ENST00000352140.3_Silent_p.V701V|PTPRC_ENST00000442510.2_Silent_p.V751V|PTPRC_ENST00000594404.1_Silent_p.V588V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	749	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTCATGGTCACTCGATGTG	0.418000													103	251					5.12507e-49	9.80578e-49	0.003610	1	0
BCHE	590	broad.mit.edu	37	3	165547481	165547481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:165547481G>T	ENST00000264381.3	-	2	1507	c.1341C>A	c.(1339-1341)taC>taA	p.Y447*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	447					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTTCAAAATAGTAGAAAAAGG	0.428000													18	56					1.33834e-09	1.89717e-09	0.007413	1	0
VWF	7450	broad.mit.edu	37	12	6182846	6182846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:6182846G>T	ENST00000261405.5	-	8	1190	c.936C>A	c.(934-936)tgC>tgA	p.C312*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	312	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGGCTCTGGCAGGTCCTGG	0.542000													12	75					9.05144e-12	1.35567e-11	0.001855	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066944	40066944	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:40066944C>T	ENST00000336649.4	+	29	4542	c.4542C>T	c.(4540-4542)caC>caT	p.H1514H	CACNA1I_ENST00000401624.1_Silent_p.H1508H|CACNA1I_ENST00000400164.3_Silent_p.H1473H|CACNA1I_ENST00000404898.1_Silent_p.H1473H|CACNA1I_ENST00000407673.1_Silent_p.H1473H|CACNA1I_ENST00000402142.3_Silent_p.H1508H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1508					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCTGGAGCACTACAATCAGC	0.602000													15	69					0	0	0.004007	0	0
BEND5	79656	broad.mit.edu	37	1	49224782	49224782	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:49224782G>C	ENST00000371833.3	-	3	621	c.535C>G	c.(535-537)Ccc>Gcc	p.P179A	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	179										large_intestine(5)|lung(2)|skin(1)	8						AGAGCCCGGGGCACCACAGCA	0.627000													21	47					0	0	0.001523	0	0
CACNA1E	777	broad.mit.edu	37	1	181764028	181764028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:181764028G>T	ENST00000526775.1	+	44	6035	c.5870G>T	c.(5869-5871)cGt>cTt	p.R1957L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2019L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2000L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1970L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1908L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1583L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1976L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2019					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCATGAGACGTTCATTTTCC	0.468000													14	43					2.48551e-13	3.86245e-13	0.004990	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709587	31709587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31709587C>A	ENST00000382835.2	-	1	425	c.400G>T	c.(400-402)Gca>Tca	p.A134S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	134						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGGCTTGCAGGTTGGCAG	0.483000													41	175					3.4345e-17	5.78534e-17	0.002852	1	0
C6orf118	168090	broad.mit.edu	37	6	165715399	165715399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:165715399G>T	ENST00000543069.1	-	2	681	c.100C>A	c.(100-102)Ctt>Att	p.L34I	C6orf118_ENST00000230301.8_Missense_Mutation_p.L138I			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	138										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGTGGGAAAGAGAGGCCTGG	0.617000													6	135					1.06961e-07	1.41901e-07	0.003080	1	0
B3GALT5	10317	broad.mit.edu	37	21	41032852	41032852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:41032852G>T	ENST00000380620.3	+	5	958	c.366G>T	c.(364-366)aaG>aaT	p.K122N	B3GALT5_ENST00000380618.1_Missense_Mutation_p.K122N|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.K122N|B3GALT5_ENST00000343118.4_Missense_Mutation_p.K122N			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	122					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TTATCCAGAAGGATTTCCTAG	0.522000													18	61					6.49762e-13	9.9801e-13	0.006122	1	0
RBMX	27316	broad.mit.edu	37	X	135956515	135956515	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135956515C>A	ENST00000320676.7	-	9	1116	c.962G>T	c.(961-963)gGt>gTt	p.G321V	RBMX_ENST00000570135.1_Missense_Mutation_p.G186V|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.G193V|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	321						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCGACTTCCACCATATCCGTC	0.532000													15	302					4.11147e-13	6.34451e-13	0.003755	1	0
TMEM38B	55151	broad.mit.edu	37	9	108483876	108483876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:108483876G>T	ENST00000374688.1	+	3	876	c.166G>T	c.(166-168)Gtt>Ttt	p.V56F	TMEM38B_ENST00000374692.3_Missense_Mutation_p.V110F			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	110						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ATATCTACCTGTTCAACTACT	0.363000													10	29					0.00010058	0.00011954	0.001368	1	0
SBK1	388228	broad.mit.edu	37	16	28328794	28328794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:28328794G>T	ENST00000341901.4	+	2	871	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	28						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGTGCCGGTGTGCCCCT	0.672000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	67					4.72057e-08	6.35166e-08	0.003954	1	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:139866350G>T	ENST00000370532.2	-	1	373	c.182C>A	c.(181-183)aCg>aAg	p.T61K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438000													84	185					1.26005e-42	2.397e-42	0.003610	1	0
SMUG1	23583	broad.mit.edu	37	12	54577464	54577464	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:54577464T>A	ENST00000505128.1	-	3	383	c.261A>T	c.(259-261)ggA>ggT	p.G87G	SMUG1_ENST00000508394.2_Silent_p.G87G|SMUG1_ENST00000514196.1_Silent_p.G87G|SMUG1_ENST00000243112.5_Silent_p.G87G|SMUG1_ENST00000506595.1_Silent_p.G87G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000401977.2_Silent_p.G87G|SMUG1_ENST00000337581.3_Silent_p.G87G|SMUG1_ENST00000514685.1_Silent_p.G87G|SMUG1_ENST00000513838.1_Silent_p.G87G			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	87				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGCCAAAAGGTCCAGGGTTCA	0.582000								Base excision repair (BER), DNA glycosylases					8	57					0	0	0.004482	0	0
KRT5	3852	broad.mit.edu	37	12	52911448	52911448	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:52911448C>A	ENST00000252242.4	-	5	1408	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	340	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGACCTCAGCGATGATGCTA	0.577000													19	127					2.39187e-15	3.88692e-15	0.008871	1	0
SPI1	6688	broad.mit.edu	37	11	47381421	47381421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:47381421G>A	ENST00000378538.3	-	3	535	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.P105S|SPI1_ENST00000227163.4_Missense_Mutation_p.P106S	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CCAAGACTGGGATGGGGTGGC	0.677000													22	40					0	0	0.004656	0	0
OR2C1	4993	broad.mit.edu	37	16	3406235	3406235	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:3406235A>G	ENST00000304936.2	+	1	347	c.295A>G	c.(295-297)Acc>Gcc	p.T99A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGCTGCATAACCCAGCTCTA	0.567000													8	70					0	0	0.003080	0	0
BCAM	4059	broad.mit.edu	37	19	45322968	45322968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:45322968G>T	ENST00000391955.1	+	13	1792	c.1748G>T	c.(1747-1749)cGg>cTg	p.R583L	BCAM_ENST00000270233.6_Missense_Mutation_p.R583L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	583					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCAGCGGCGGGAGAAGGGG	0.637000													8	10					2.17888e-05	2.6515e-05	0.006214	1	0
FETUB	26998	broad.mit.edu	37	3	186358347	186358347	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:186358347C>T	ENST00000265029.3	+	1	199	c.98C>T	c.(97-99)tCc>tTc	p.S33F	FETUB_ENST00000382136.3_Missense_Mutation_p.S33F|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.S33F|FETUB_ENST00000450521.1_Missense_Mutation_p.S33F	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	33	Cystatin fetuin-B-type 1.		S -> P (in dbSNP:rs34522046).			extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCTCTGCTCTCCCGGGGCTGC	0.577000													95	181					0	0	0.003610	0	0
SGCZ	137868	broad.mit.edu	37	8	13959971	13959971	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:13959971G>A	ENST00000382080.1	-	7	1373	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	SGCZ_ENST00000421524.2_Missense_Mutation_p.P173S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	207					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCCACGGGGAGCTTCCATG	0.448000													5	34					0	0	0.000602	0	0
AMY2A	279	broad.mit.edu	37	1	104163185	104163185	+	Missense_Mutation	SNP	G	G	T	rs142529431		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:104163185G>T	ENST00000414303.2	+	5	821	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	253					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AATTGATCTGGGTGGTGAGCC	0.348000													27	207					2.61675e-31	4.85236e-31	0.003214	1	0
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:111785291C>A	ENST00000452346.2	+	13	1611	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	TMPRSS7_ENST00000419127.1_Silent_p.L410L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGCCCTCTCATCTGTGATG	0.507000													25	95					5.45727e-16	8.94236e-16	0.008361	1	0
ZFP82	284406	broad.mit.edu	37	19	36884554	36884554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:36884554C>A	ENST00000392161.3	-	5	930	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.E230*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCCCACATTCCTTACATTCA	0.418000													15	84					1.5739e-10	2.28993e-10	0.004007	1	0
EIF2S3	1968	broad.mit.edu	37	X	24075597	24075597	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:24075597C>T	ENST00000253039.4	+	3	446	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	65						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TTCTGGAGTTCATACTGTCAG	0.348000													9	41					0	0	0.004482	0	0
GBAS	2631	broad.mit.edu	37	7	56062641	56062641	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:56062641C>G	ENST00000322090.3	+	8	701	c.672C>G	c.(670-672)ttC>ttG	p.F224L	GBAS_ENST00000446778.1_Missense_Mutation_p.F185L	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	224						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGATTCTTCTCTCAGATTG	0.438000													4	99					0	0	0.000602	0	0
TRAF2	7186	broad.mit.edu	37	9	139814764	139814764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:139814764G>C	ENST00000359662.3	+	8	958	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	TRAF2_ENST00000536468.1_Missense_Mutation_p.E253Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E253Q|TRAF2_ENST00000482854.1_3'UTR			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	253				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTCGGTGCTGGAGGCAAAGCC	0.622000													10	34					0	0	0.006214	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214469	7214469	+	Silent	SNP	C	C	A	rs145957081	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:7214469C>A	ENST00000361972.4	-	18	2229	c.2139G>T	c.(2137-2139)gcG>gcT	p.A713A	SFMBT2_ENST00000397167.1_Silent_p.A713A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					regulation of transcription, DNA-dependent	nucleus		p.A713A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCCCCGAGCCCGCGGTGAAGT	0.642000													7	17					0.00198382	0.00226039	0.001984	1	0
RIMS2	9699	broad.mit.edu	37	8	105025673	105025673	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:105025673T>G	ENST00000507740.1	+	16	2726	c.2490T>G	c.(2488-2490)gaT>gaG	p.D830E	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1016E|RIMS2_ENST00000262231.10_Missense_Mutation_p.D855E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1078	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTCAGGGATTGTGAAGCAG	0.448000										HNSCC(12;0.0054)			10	37					0	0	0.000978	0	0
SPATA20	64847	broad.mit.edu	37	17	48628411	48628411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:48628411T>C	ENST00000006658.6	+	12	1556	c.1436T>C	c.(1435-1437)cTg>cCg	p.L479P	SPATA20_ENST00000393244.3_Missense_Mutation_p.L419P|SPATA20_ENST00000356488.4_Missense_Mutation_p.L463P|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	463					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTACTCGCTGGAGCTGACT	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					0	0	0.000978	0	0
MED12	9968	broad.mit.edu	37	X	70345560	70345560	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:70345560T>G	ENST00000333646.6	+	17	2618	c.2419T>G	c.(2419-2421)Tta>Gta	p.L807V	MED12_ENST00000374102.1_Missense_Mutation_p.L807V|MED12_ENST00000374080.3_Missense_Mutation_p.L807V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	807					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGACATTCTTAGGTACCTC	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	68					0	0	0.004007	0	0
UEVLD	55293	broad.mit.edu	37	11	18591865	18591865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:18591865G>A	ENST00000396197.3	-	4	281	c.253C>T	c.(253-255)Cct>Tct	p.P85S	UEVLD_ENST00000543987.1_Missense_Mutation_p.P85S|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.P63S|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Missense_Mutation_p.P47S|UEVLD_ENST00000320750.6_Missense_Mutation_p.P63S|UEVLD_ENST00000300038.7_Missense_Mutation_p.P85S	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	85	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AAGCAAATAGGGGGAGCGAAA	0.368000													8	26					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113418829	113418829	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:113418829A>G	ENST00000297405.5	-	35	5977	c.5733T>C	c.(5731-5733)caT>caC	p.H1911H	CSMD3_ENST00000343508.3_Silent_p.H1871H|CSMD3_ENST00000455883.2_Silent_p.H1807H|CSMD3_ENST00000352409.3_Silent_p.H1841H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1911	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTATGGATCCATGGAGAATAT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	45					0	0	0.001168	0	0
MARCH1	55016	broad.mit.edu	37	4	164534471	164534471	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:164534471G>A	ENST00000503008.1	-	5	1213	c.237C>T	c.(235-237)atC>atT	p.I79I	MARCH1_ENST00000514618.1_Silent_p.I79I|MARCH1_ENST00000339875.5_Silent_p.I62I|MARCH1_ENST00000274056.7_Silent_p.I79I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	79					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTACCTGCAGATGTCCTGAG	0.428000													7	66					0	0	0.004482	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980044	10980044	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:10980044G>C	ENST00000254488.2	+	14	1921	c.1855G>C	c.(1855-1857)Gac>Cac	p.D619H		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	619					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCAAGAGTGACGGGACCAT	0.552000													4	89					0	0	0.000602	0	0
URI1	8725	broad.mit.edu	37	19	30477230	30477230	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:30477230C>T	ENST00000392271.1	+	4	570	c.45C>T	c.(43-45)gtC>gtT	p.V15V	URI1_ENST00000360605.4_Silent_p.V73V|URI1_ENST00000312051.6_Silent_p.V51V|URI1_ENST00000542441.2_Silent_p.V91V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	91					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GAAAACTTGTCCATACTAATG	0.388000													17	86					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56341021	56341021	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:56341021T>C	ENST00000370754.5	-	92	21696	c.21697A>G	c.(21697-21699)Aca>Gca	p.T7233A	DST_ENST00000370788.2_Missense_Mutation_p.T4858A|DST_ENST00000370769.4_Missense_Mutation_p.T7055A|DST_ENST00000361203.3_Missense_Mutation_p.T6944A|DST_ENST00000244364.6_Missense_Mutation_p.T4641A|DST_ENST00000421834.2_Missense_Mutation_p.T4967A|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.T6729A			Q03001	DYST_HUMAN	dystonin	7053	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGTAAGTGTAGTTTCAGCC	0.433000													7	18					0	0	0.003080	0	0
ZNF609	23060	broad.mit.edu	37	15	64966165	64966165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:64966165G>T	ENST00000326648.3	+	4	1240	c.1112G>T	c.(1111-1113)aGa>aTa	p.R371I	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	371						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCGGGGTAGAGGCAAACGC	0.498000													14	80					2.32078e-09	3.28282e-09	0.003163	1	0
MYOZ3	91977	broad.mit.edu	37	5	150051463	150051463	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:150051463G>A	ENST00000297130.4	+	5	616	c.417G>A	c.(415-417)ctG>ctA	p.L139L	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Silent_p.L139L	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	139						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCGCCCTGGCGCCAGGTG	0.736000													4	4					0	0	0.000248	0	0
SEMG2	6407	broad.mit.edu	37	20	43851084	43851084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:43851084A>G	ENST00000372769.3	+	2	901	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	271	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACACCAGACAAAAAATCTCAG	0.418000													29	25					0	0	0.006320	0	0
LRTM1	57408	broad.mit.edu	37	3	54958689	54958689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:54958689G>T	ENST00000273286.5	-	2	723	c.561C>A	c.(559-561)caC>caA	p.H187Q	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.H111Q|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	187	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GACCGAGCAAGTGGCAATTGC	0.468000													26	60					1.77063e-15	2.88709e-15	0.005443	1	0
STK11IP	114790	broad.mit.edu	37	2	220477903	220477903	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:220477903G>T	ENST00000456909.1	+	20	2583	c.2493G>T	c.(2491-2493)gtG>gtT	p.V831V	STK11IP_ENST00000295641.10_Silent_p.V842V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	842					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTTGTGTCTGACCGCA	0.592000													7	38					3.09899e-07	4.00689e-07	0.004482	1	0
FBLN1	2192	broad.mit.edu	37	22	45929726	45929726	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:45929726G>T	ENST00000348697.2	+	7	879	c.732G>T	c.(730-732)cgG>cgT	p.R244R	FBLN1_ENST00000442170.2_Silent_p.R244R|FBLN1_ENST00000402984.3_Silent_p.R282R|FBLN1_ENST00000327858.6_Silent_p.R244R|FBLN1_ENST00000262722.7_Silent_p.R244R|FBLN1_ENST00000340923.5_Silent_p.R244R			P23142	FBLN1_HUMAN	fibulin 1	244	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGCCAGCGGGACAGCAGCT	0.572000													40	136					1.06522e-23	1.91104e-23	0.003214	1	0
CDC5L	988	broad.mit.edu	37	6	44397514	44397514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:44397514C>G	ENST00000371477.3	+	14	2257	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	653	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGAGCTCTCAAGTGAAGCT	0.428000													15	63					0	0	0.004990	0	0
PAPOLG	64895	broad.mit.edu	37	2	60987422	60987422	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:60987422G>C	ENST00000238714.3	+	2	420	c.171G>C	c.(169-171)ttG>ttC	p.L57F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	57					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGGAAGAATTGAACCACAGGT	0.323000													4	40					0	0	0.000602	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703849	7703849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:7703849G>T	ENST00000340209.4	+	9	1102	c.805G>T	c.(805-807)Gcg>Tcg	p.A269S	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A284S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A284S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A307S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A284S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A237S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A221S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A281S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A307S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	264					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCCACCGCCGCGGCCGCCTA	0.711000													17	63					2.37509e-13	3.69955e-13	0.001523	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291725	141291725	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:141291725G>T	ENST00000247452.3	-	3	396	c.49C>A	c.(49-51)Ccg>Acg	p.P17T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	17						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGAGGTCGGGGAGTCGTTG	0.512000										HNSCC(46;0.14)			68	175					9.53695e-23	1.68809e-22	0.003610	1	0
SPATA21	374955	broad.mit.edu	37	1	16725938	16725938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:16725938C>A	ENST00000335496.1	-	12	1735	c.1253G>T	c.(1252-1254)aGg>aTg	p.R418M	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.R395M	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	418							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTCGGCTGCCTACGGACCAT	0.597000													13	42					0.000151284	0.00017884	0.001855	1	0
CATSPERD	257062	broad.mit.edu	37	19	5745958	5745958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:5745958G>T	ENST00000381624.3	+	9	753	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	231						integral to membrane											CCCCTCAACCGGAGTTTCGGG	0.527000													86	143					1.68737e-39	3.18244e-39	0.003610	1	0
TGFBR2	7048	broad.mit.edu	37	3	30713590	30713590	+	Silent	SNP	C	C	T	rs146030104	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:30713590C>T	ENST00000295754.5	+	4	1297	c.915C>T	c.(913-915)ctC>ctT	p.L305L	TGFBR2_ENST00000359013.4_Silent_p.L330L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	305	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAACATACTCCAGTTCCTGA	0.517000													18	64					0	0	0.007413	0	0
OR2W3	343171	broad.mit.edu	37	1	248059225	248059225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248059225C>A	ENST00000537741.1	+	3	594	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	OR2W3_ENST00000360358.3_Missense_Mutation_p.L113M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGAGTGCCTGCTTCTGGC	0.572000													19	67					4.35082e-09	6.12817e-09	0.001523	1	0
MEPE	56955	broad.mit.edu	37	4	88766489	88766489	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:88766489C>A	ENST00000497649.2	+	6	775	c.397C>A	c.(397-399)Cca>Aca	p.P133T	MEPE_ENST00000540395.1_Missense_Mutation_p.P44T|MEPE_ENST00000395102.4_Missense_Mutation_p.P188T|MEPE_ENST00000361056.3_Missense_Mutation_p.P157T|MEPE_ENST00000424957.3_Missense_Mutation_p.P157T|MEPE_ENST00000560249.1_Missense_Mutation_p.P44T|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	157					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TATAATGGGGCCAGTGACTGC	0.408000													20	29					2.27731e-05	2.7662e-05	0.001882	1	0
PCDH15	65217	broad.mit.edu	37	10	56287577	56287577	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:56287577C>T	ENST00000373965.2	-	3	546	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	PCDH15_ENST00000395440.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R51Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R51Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R56Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R51Q|RP11-257I14.1_ENST00000422842.1_RNA	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	51	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACCATTCCGACTTTCTTC	0.338000										HNSCC(58;0.16)			8	37					0	0	0.006214	0	0
OR2M5	127059	broad.mit.edu	37	1	248308855	248308855	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248308855A>T	ENST00000366476.1	+	1	406	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CACCAATCTCATGAGACCCAA	0.448000													67	356					0	0	0.003610	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519823	64519823	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:64519823T>G	ENST00000355086.3	+	19	2815	c.2291T>G	c.(2290-2292)tTc>tGc	p.F764C	SRGAP1_ENST00000543397.1_Missense_Mutation_p.F701C|SRGAP1_ENST00000357825.3_Missense_Mutation_p.F741C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	764	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAACTATCCTTCAAGAAGGGT	0.512000													12	53					0	0	0.000978	0	0
ADH6	130	broad.mit.edu	37	4	100131439	100131439	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:100131439G>T	ENST00000394897.1	-	5	449	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.L123M|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.L123M			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	123					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCAGACATCAGTTGGGTTTTT	0.333000													17	40					4.75885e-15	7.70259e-15	0.004990	1	0
WNT11	7481	broad.mit.edu	37	11	75905828	75905828	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:75905828G>A	ENST00000322563.3	-	3	504	c.380C>T	c.(379-381)gCc>gTc	p.A127V	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	127					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGGCCCGGGCGATGGCGTG	0.736000													4	3					0	0	0.000248	0	0
STARD8	9754	broad.mit.edu	37	X	67937571	67937571	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:67937571C>G	ENST00000252336.6	+	5	947	c.575C>G	c.(574-576)gCc>gGc	p.A192G	STARD8_ENST00000374597.3_Missense_Mutation_p.A192G|STARD8_ENST00000374599.3_Missense_Mutation_p.A272G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCAGTGGTGCCAATACTCGG	0.622000													27	58					0	0	0.006320	0	0
KIF19	124602	broad.mit.edu	37	17	72347009	72347009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72347009C>A	ENST00000389916.4	+	12	1690	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M	AC103809.2_ENST00000599136.1_Missense_Mutation_p.R101M	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	518					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGCAGCCCTGGTGGACGA	0.612000													51	120					2.23044e-30	4.11295e-30	0.003610	1	0
FBXL13	222235	broad.mit.edu	37	7	102517935	102517935	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:102517935A>G	ENST00000393772.2	-	16	2040	c.1614T>C	c.(1612-1614)tcT>tcC	p.S538S	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.S538S|FBXL13_ENST00000436908.1_Silent_p.S538S|FBXL13_ENST00000379305.3_Silent_p.S538S|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Silent_p.S538S|FBXL13_ENST00000313221.4_Silent_p.S538S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	538										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TGTCTGTTCCAGAGAGATCTA	0.284000													22	27					0	0	0.002780	0	0
TGM6	343641	broad.mit.edu	37	20	2381054	2381054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:2381054G>T	ENST00000202625.2	+	7	1014	c.953G>T	c.(952-954)gGg>gTg	p.G318V	TGM6_ENST00000381423.1_Missense_Mutation_p.G318V|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	318					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GACTCCTTCGGGCGGACCCTG	0.617000													27	34					5.77227e-19	9.87401e-19	0.008361	1	0
LATS1	9113	broad.mit.edu	37	6	150004837	150004837	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:150004837T>C	ENST00000543571.1	-	4	1935	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	LATS1_ENST00000392273.3_Missense_Mutation_p.N463S|LATS1_ENST00000253339.5_Missense_Mutation_p.N463S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	463					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)		ATTAAAAGAATTTGACCTCAC	0.453000													78	114					0	0	0.003610	0	0
COG6	57511	broad.mit.edu	37	13	40261879	40261879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:40261879G>T	ENST00000416691.1	+	10	1052	c.952G>T	c.(952-954)Gct>Tct	p.A318S	COG6_ENST00000455146.3_Missense_Mutation_p.A318S	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	318					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GCTCCATCAAGCTACTGCTTC	0.378000													24	48					4.7796e-09	6.68942e-09	0.004656	1	0
GPR50	9248	broad.mit.edu	37	X	150349627	150349627	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:150349627C>A	ENST00000218316.3	+	2	1641	c.1572C>A	c.(1570-1572)gcC>gcA	p.A524A		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	524	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAGCCTGCCACTACCAGCC	0.612000													50	176					2.0833e-19	3.58219e-19	0.003610	1	0
DROSHA	29102	broad.mit.edu	37	5	31495408	31495408	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:31495408C>A	ENST00000511367.2	-	11	1984	c.1740G>T	c.(1738-1740)ccG>ccT	p.P580P	DROSHA_ENST00000344624.3_Silent_p.P580P|DROSHA_ENST00000442743.1_Silent_p.P543P|DROSHA_ENST00000513349.1_Silent_p.P543P	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	580	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGTTCGTAGGCGGGGAGACTG	0.383000													10	18					3.86212e-05	4.64859e-05	0.008291	1	0
AURKC	6795	broad.mit.edu	37	19	57744036	57744036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:57744036G>C	ENST00000302804.7	+	4	609	c.423G>C	c.(421-423)caG>caC	p.Q141H	AURKC_ENST00000599062.1_Missense_Mutation_p.Q138H|AURKC_ENST00000415300.2_Missense_Mutation_p.Q122H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q107H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q107H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	141	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		TAGATGAACAGCGCACAGCCA	0.552000													6	40					0	0	0.001168	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771078	99771078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:99771078G>A	ENST00000370597.3	-	2	396	c.41C>T	c.(40-42)cCg>cTg	p.P14L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	14						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGCAGGAACGGTAACATCCT	0.512000													16	92					0	0	0.004007	0	0
XYLT1	64131	broad.mit.edu	37	16	17211743	17211743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:17211743C>A	ENST00000261381.6	-	11	2401	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	773					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCCCTTCCCCCACTTCTGC	0.567000													23	64					2.89027e-11	4.26137e-11	0.002299	1	0
SLC10A5	347051	broad.mit.edu	37	8	82607015	82607015	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:82607015C>G	ENST00000518568.1	-	1	1394	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	65						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTAGGATCTTCTATTTTCACA	0.368000													28	53					0	0	0.005443	0	0
GPR156	165829	broad.mit.edu	37	3	119886566	119886566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:119886566C>A	ENST00000464295.1	-	10	2203	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	GPR156_ENST00000315843.3_Missense_Mutation_p.M586I|GPR156_ENST00000461057.1_Missense_Mutation_p.M582I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	586						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGGAGAGGGGCATCTTTTGGG	0.607000													10	49					4.68919e-08	6.33519e-08	0.008291	1	0
VCX3B	425054	broad.mit.edu	37	X	8434331	8434331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:8434331G>T	ENST00000381032.1	+	3	955	c.648G>T	c.(646-648)caG>caT	p.Q216H	VCX3B_ENST00000440654.2_Missense_Mutation_p.Q166H|VCX3B_ENST00000381029.4_Missense_Mutation_p.Q184H|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.Q186H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CACTGAGTCAGGAGAGCCAGG	0.562000													23	295					2.65835e-16	4.38859e-16	0.007291	1	0
ZNF516	9658	broad.mit.edu	37	18	74091609	74091609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:74091609C>G	ENST00000443185.2	-	4	2778	c.2461G>C	c.(2461-2463)Gcc>Ccc	p.A821P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCACCGAGGGCAGGCGGGGGG	0.612000													26	49					0	0	0.003954	0	0
KCNT1	57582	broad.mit.edu	37	9	138656985	138656985	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:138656985A>T	ENST00000298480.5	+	12	1218	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	KCNT1_ENST00000263604.3_Nonsense_Mutation_p.K363*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.K382*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.K343*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.K349*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.K337*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	382						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCTCAAGATCGACCT	0.642000													25	79					0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113173854	113173854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:113173854T>C	ENST00000401783.2	-	37	6473	c.6137A>G	c.(6136-6138)tAc>tGc	p.Y2046C	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2023C|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2046	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCAGAGCAGTAGTAGAATGC	0.552000													11	23					0	0	0.000978	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	56					0	0	0.001168	0	0
LRRC55	219527	broad.mit.edu	37	11	56954808	56954808	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:56954808C>T	ENST00000497933.1	+	2	1027	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	264						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCTGCCACCTGACCCTGAC	0.582000													18	78					0	0	0.004990	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130831345	130831345	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:130831345C>T	ENST00000509018.1	-	13	1633	c.1428G>A	c.(1426-1428)cgG>cgA	p.R476R	RAPGEF6_ENST00000512052.1_Silent_p.R191R|FNIP1_ENST00000514667.1_Silent_p.R526R|RAPGEF6_ENST00000307984.5_Silent_p.R476R|RAPGEF6_ENST00000507093.1_Silent_p.R476R|RAPGEF6_ENST00000308008.6_Silent_p.R476R|RAPGEF6_ENST00000510071.1_Silent_p.R476R|RAPGEF6_ENST00000296859.6_Silent_p.R476R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	476	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAATACAATCCGTGTCACCT	0.358000													5	27					0	0	0.001168	0	0
SCFD2	152579	broad.mit.edu	37	4	53773703	53773703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:53773703C>T	ENST00000401642.3	-	7	1896	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	SCFD2_ENST00000388940.4_Intron	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	588					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAATCTGGCCTCTCGGGATG	0.403000													37	51					0	0	0.004289	0	0
MPL	4352	broad.mit.edu	37	1	43805148	43805148	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:43805148C>A	ENST00000372470.3	+	4	640	c.598C>A	c.(598-600)Cct>Act	p.P200T	MPL_ENST00000413998.2_Missense_Mutation_p.P200T	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	200	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGCAGAGGCCTCACTCAGC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						29	70					1.16021e-09	1.64819e-09	0.007291	1	0
RIT2	6014	broad.mit.edu	37	18	40503615	40503615	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:40503615G>A	ENST00000590910.1	-	5	539	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RIT2_ENST00000589109.1_Silent_p.L116L|RIT2_ENST00000282028.4_Silent_p.L116L|RIT2_ENST00000326695.5_Silent_p.L116L			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGAAAAATGAGCTCTTTAA	0.507000													97	138					0	0	0.003610	0	0
DUS3L	56931	broad.mit.edu	37	19	5789498	5789498	+	Missense_Mutation	SNP	C	C	A	rs34998818	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:5789498C>A	ENST00000309061.7	-	3	716	c.620G>T	c.(619-621)cGc>cTc	p.R207L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	207					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGGCCGTTGCGGATGGACGG	0.721000													5	24					0.000602214	0.000695752	0.000602	1	0
SH3BP1	23616	broad.mit.edu	37	22	38040682	38040682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:38040682G>T	ENST00000599616.1	+	6	465	c.465G>T	c.(463-465)aaG>aaT	p.K155N	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K219N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K219N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K219N			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	219	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TTGTTACCAAGGAGGACTCCT	0.587000													38	176					1.30091e-30	2.40559e-30	0.006999	1	0
TNR	7143	broad.mit.edu	37	1	175372666	175372666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:175372666C>G	ENST00000367674.1	-	4	1294	c.586G>C	c.(586-588)Ggc>Cgc	p.G196R	TNR_ENST00000263525.2_Missense_Mutation_p.G196R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	196	Cys-rich.|EGF-like 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAATTCTTGCCAAACCAGCCT	0.577000													22	134					0	0	0.002299	0	0
RELB	5971	broad.mit.edu	37	19	45540760	45540760	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:45540760C>G	ENST00000221452.8	+	12	1602	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	RELB_ENST00000540120.1_Silent_p.L484L|RELB_ENST00000505236.1_Silent_p.L481L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	484						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGCCTGACCTCCTGGACGATG	0.682000													8	90					0	0	0.003080	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956212	45956212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:45956212C>T	ENST00000275521.6	-	3	818	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	IGFBP3_ENST00000381086.5_Missense_Mutation_p.V132M|IGFBP3_ENST00000381083.4_Missense_Mutation_p.V235M	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	229	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	GGACTCAGCACATTGAGGAAC	0.478000													57	66					0	0	0.003610	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757176	135757176	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135757176G>T	ENST00000250617.6	-	19	3230	c.2025C>A	c.(2023-2025)ggC>ggA	p.G675G	ARHGEF6_ENST00000370620.1_Silent_p.G521G|ARHGEF6_ENST00000370622.1_Silent_p.G521G|ARHGEF6_ENST00000535227.1_Silent_p.G548G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	675					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTGAGCCATGGCCTTGTTGAA	0.423000													20	69					2.98393e-07	3.88087e-07	0.002780	1	0
TXNDC15	79770	broad.mit.edu	37	5	134223588	134223588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:134223588G>T	ENST00000358387.4	+	2	932	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	TXNDC15_ENST00000546290.1_Missense_Mutation_p.D80Y	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	103					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAGCTGAGGACAAAGTGAG	0.607000													8	40					0.000442599	0.000513136	0.006214	1	0
L1CAM	3897	broad.mit.edu	37	X	153133826	153133826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153133826G>T	ENST00000370060.1	-	14	1823	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	L1CAM_ENST00000538883.1_Missense_Mutation_p.P547H|L1CAM_ENST00000543994.1_Missense_Mutation_p.P547H|L1CAM_ENST00000370055.1_Missense_Mutation_p.P540H|L1CAM_ENST00000361981.3_Missense_Mutation_p.P540H|L1CAM_ENST00000361699.4_Missense_Mutation_p.P545H|L1CAM_ENST00000370057.3_Missense_Mutation_p.P545H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	545	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAAGGAGGGGTCAAAGGA	0.602000													58	228					1.95512e-22	3.44226e-22	0.003610	1	0
CHRNA10	57053	broad.mit.edu	37	11	3687438	3687438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:3687438C>A	ENST00000250699.2	-	5	1323	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	418					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCTTCCAGTCCTCATGGCAG	0.637000													15	78					3.45872e-05	4.18587e-05	0.004007	1	0
IMMT	10989	broad.mit.edu	37	2	86371740	86371740	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:86371740C>T	ENST00000410111.3	-	15	2315	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	IMMT_ENST00000254636.5_Missense_Mutation_p.R544Q|IMMT_ENST00000449247.2_Missense_Mutation_p.R632Q|IMMT_ENST00000442664.2_Missense_Mutation_p.R642Q|IMMT_ENST00000409051.2_Missense_Mutation_p.R596Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	643						integral to mitochondrial inner membrane	protein binding	p.R643Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTACCCTTCGGGCCAGTTT	0.512000													8	166					0	0	0.004482	0	0
CAPN6	827	broad.mit.edu	37	X	110494310	110494310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:110494310G>T	ENST00000324068.1	-	8	1160	c.993C>A	c.(991-993)tgC>tgA	p.C331*	CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C76*	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	331	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAAAGTTGCGGCAAAAGTCCT	0.438000													223	394					2.48234e-129	4.77706e-129	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168103850	168103850	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:168103850C>T	ENST00000409195.1	+	9	6037	c.5948C>T	c.(5947-5949)cCa>cTa	p.P1983L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1761L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1983L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1808					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCAGGTCCATTTGAGCCA	0.473000													26	37					0	0	0.003954	0	0
PDGFC	56034	broad.mit.edu	37	4	157732074	157732074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:157732074C>T	ENST00000502773.1	-	3	900	c.410G>A	c.(409-411)gGa>gAa	p.G137E	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.G137E|PDGFC_ENST00000542208.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	137	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTGATTTCCTTTAGAAAT	0.398000													20	28					0	0	0.007413	0	0
SACS	26278	broad.mit.edu	37	13	23913373	23913373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:23913373C>A	ENST00000382298.3	-	10	5230	c.4642G>T	c.(4642-4644)Gga>Tga	p.G1548*	SACS_ENST00000382292.3_Nonsense_Mutation_p.G1548*|SACS_ENST00000402364.1_Nonsense_Mutation_p.G798*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1548					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAACTTCTCCCCTTTTTAAA	0.368000													15	42					1.5739e-10	2.28993e-10	0.004007	1	0
ANXA5	308	broad.mit.edu	37	4	122607458	122607458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:122607458C>A	ENST00000296511.5	-	3	364	c.79G>T	c.(79-81)Gct>Tct	p.A27S	ANXA5_ENST00000515017.1_Missense_Mutation_p.A27S|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	27					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CCTTTCATAGCCTTCCGAAGA	0.373000													24	43					4.87955e-14	7.76506e-14	0.005443	1	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													5	10					0	0	0.001168	0	0
UBASH3B	84959	broad.mit.edu	37	11	122680461	122680461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:122680461C>T	ENST00000284273.5	+	14	2192	c.1817C>T	c.(1816-1818)cCa>cTa	p.P606L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	606	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTTCAGATCCCATATCTGGGA	0.413000													15	26					0	0	0.002450	0	0
IMMP2L	83943	broad.mit.edu	37	7	111127317	111127317	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:111127317G>T	ENST00000405709.2	-	3	658	c.216C>A	c.(214-216)caC>caA	p.H72Q	IMMP2L_ENST00000447215.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000331762.3_Missense_Mutation_p.H72Q|IMMP2L_ENST00000415362.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000452895.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000437687.1_Missense_Mutation_p.H72Q	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	72					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGTCACCACGGTGTACTTCAA	0.368000													38	46					2.47872e-24	4.47116e-24	0.002522	1	0
BEND5	79656	broad.mit.edu	37	1	49224778	49224778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:49224778C>A	ENST00000371833.3	-	3	625	c.539G>T	c.(538-540)cGg>cTg	p.R180L	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	180										large_intestine(5)|lung(2)|skin(1)	8						ATACAGAGCCCGGGGCACCAC	0.622000													25	44					3.08376e-08	4.19189e-08	0.003330	1	0
BMP6	654	broad.mit.edu	37	6	7862567	7862567	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:7862567T>G	ENST00000283147.6	+	4	1199	c.1040T>G	c.(1039-1041)gTg>gGg	p.V347G		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	347					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCAGGCCTGGTGGGCAGAGAC	0.557000													22	83					0	0	0.003330	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913188	143913188	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:143913188C>A	ENST00000409869.1	+	3	306	c.129C>A	c.(127-129)tcC>tcA	p.S43S	ARHGAP15_ENST00000295095.6_Silent_p.S43S			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	43					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGTAAATCCATGATCCTCA	0.443000													18	32					1.64113e-05	2.00079e-05	0.001523	1	0
HERC2	8924	broad.mit.edu	37	15	28508211	28508211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:28508211C>G	ENST00000261609.7	-	15	2083	c.1975G>C	c.(1975-1977)Gtg>Ctg	p.V659L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	659					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTTGACCACATCCAAGTCT	0.473000													11	51					0	0	0.001368	0	0
CERKL	375298	broad.mit.edu	37	2	182413579	182413579	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:182413579C>G	ENST00000410087.3	-	7	1001	c.901G>C	c.(901-903)Gta>Cta	p.V301L	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.V283L|CERKL_ENST00000374969.2_Missense_Mutation_p.V188L|CERKL_ENST00000374970.2_Missense_Mutation_p.V232L|CERKL_ENST00000339098.5_Missense_Mutation_p.V327L	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	327	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACCAGCTGTACATGCCCTTGA	0.433000													13	41					0	0	0.002450	0	0
FOXD4	2298	broad.mit.edu	37	9	118065	118065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:118065C>A	ENST00000382500.2	-	1	352	c.55G>T	c.(55-57)Gac>Tac	p.D19Y		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	19					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCATCGGAGTCCCGGAGGCTG	0.627000													37	61					8.48111e-28	1.55958e-27	0.003610	1	0
GJA10	84694	broad.mit.edu	37	6	90605647	90605647	+	Missense_Mutation	SNP	C	C	G	rs150458704		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:90605647C>G	ENST00000369352.1	+	1	1460	c.1460C>G	c.(1459-1461)cCg>cGg	p.P487R		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	487					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGCCCTACCGATCATGGAA	0.473000													35	96					0	0	0.005524	0	0
LRP2	4036	broad.mit.edu	37	2	169996113	169996113	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:169996113T>C	ENST00000263816.3	-	73	13492	c.13207A>G	c.(13207-13209)Agc>Ggc	p.S4403G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4403	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTAGCCGCTAGGACACCTG	0.398000													25	102					0	0	0.003330	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071069	102071069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:102071069G>T	ENST00000549145.1	+	27	3124	c.3024G>T	c.(3022-3024)ttG>ttT	p.L1008F	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L965F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L963F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L951F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L977F|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L958F|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L964F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L977F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L878F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	995	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTACTGAATTGGTCATAGGGA	0.408000													28	57					7.38237e-10	1.05554e-09	0.006320	1	0
FOXN2	3344	broad.mit.edu	37	2	48573727	48573727	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:48573727T>C	ENST00000340553.3	+	3	635	c.374T>C	c.(373-375)aTt>aCt	p.I125T		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	125					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TATATGGCCATTGAGCACTCT	0.418000													8	182					0	0	0.004482	0	0
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:73649905G>A	ENST00000377687.4	+	4	1791	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KLF5_ENST00000539231.1_Missense_Mutation_p.E328K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592000													14	50					0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108443477	108443477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:108443477G>A	ENST00000408999.3	+	1	85	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.C3Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	3					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCGATGAGTTGCAGCAAGGCC	0.652000													6	12					0	0	0.001984	0	0
TRIM68	55128	broad.mit.edu	37	11	4621864	4621864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:4621864C>T	ENST00000300747.5	-	7	1389	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	367	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCACTCAGACCTGTCTCCCAC	0.537000													9	43					0	0	0.006214	0	0
BRCA1	672	broad.mit.edu	37	17	41209101	41209101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:41209101G>A	ENST00000309486.4	-	18	5384	c.4357C>T	c.(4357-4359)Cca>Tca	p.P1453S	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S|BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1749				Missing (in Ref. 3; AAC00049).	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGCTTTGGACCTTGGTGG	0.463000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			40	242					0	0	0.002222	0	0
KIF4B	285643	broad.mit.edu	37	5	154394287	154394287	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:154394287G>C	ENST00000435029.4	+	1	1028	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	290	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCCTACAGAGATTCCAAGTT	0.443000													65	92					0	0	0.003610	0	0
TNRC18	84629	broad.mit.edu	37	7	5410791	5410791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:5410791C>A	ENST00000399537.4	-	11	3782	c.3434G>T	c.(3433-3435)cGg>cTg	p.R1145L	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1145L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1145	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGCCCTCCCGCAGCGGCTC	0.687000													15	15					6.31663e-08	8.44769e-08	0.003163	1	0
PSMB10	5699	broad.mit.edu	37	16	67969891	67969891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:67969891G>T	ENST00000358514.4	-	4	695	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CGCAGGATGCGAGTGACCGTG	0.662000													17	17					7.05477e-17	1.18234e-16	0.004990	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812784	31812784	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31812784C>A	ENST00000334067.3	+	1	188	c.139C>A	c.(139-141)Ctc>Atc	p.L47I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	47						intermediate filament		p.L47I(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGGCTCCTCTCTCTACAATGG	0.483000													41	83					2.95478e-19	5.06752e-19	0.008740	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237414	140237414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140237414G>T	ENST00000307360.5	+	1	1781	c.1781G>T	c.(1780-1782)cGc>cTc	p.R594L	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAAGGTGCGCGCAGTGGAC	0.672000													5	30					8.12818e-05	9.6778e-05	0.001984	1	0
SLC22A16	85413	broad.mit.edu	37	6	110746269	110746269	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:110746269G>T	ENST00000368919.3	-	8	1607	c.1541C>A	c.(1540-1542)gCc>gAc	p.A514D	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480D	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTCAGGAGGGCCATAGTCCC	0.423000													16	42					3.41278e-10	4.93289e-10	0.004990	1	0
TSIX	9383	broad.mit.edu	37	X	73044698	73044698	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:73044698C>A	ENST00000604411.1	+	0	32659				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATATATCATTCCTTACATCTG	0.308000													12	43					6.40141e-05	7.64934e-05	0.000978	1	0
NOS2	4843	broad.mit.edu	37	17	26109099	26109099	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:26109099C>T	ENST00000313735.6	-	7	897	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	222					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCAAACATTTCCCGGGCAGTG	0.557000													11	40					0	0	0.000978	0	0
TAF1L	138474	broad.mit.edu	37	9	32635171	32635171	+	Nonsense_Mutation	SNP	G	G	T	rs139816850	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:32635171G>T	ENST00000242310.4	-	1	496	c.407C>A	c.(406-408)tCg>tAg	p.S136*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	136					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCATAATCCGAGTGGTAAAG	0.478000													40	106					7.63091e-17	1.27567e-16	0.007835	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925561	45925561	+	Silent	SNP	C	C	T	rs144563506	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45925561C>T	ENST00000395629.2	+	7	1815	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	MAPK8IP1_ENST00000241014.2_Silent_p.D505D			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	505	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GACACGAAGACGAACTTGAGC	0.592000													20	95					0	0	0.008871	0	0
RBM44	375316	broad.mit.edu	37	2	238742712	238742712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238742712C>A	ENST00000316997.4	+	14	3094	c.2962C>A	c.(2962-2964)Cca>Aca	p.P988T	RBM44_ENST00000409864.1_Missense_Mutation_p.P988T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	987							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTCATACCTCCAAATACATT	0.338000													8	11					3.09899e-07	4.00689e-07	0.004482	1	0
CNTN1	1272	broad.mit.edu	37	12	41365291	41365291	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:41365291T>C	ENST00000547849.1	+	16	2179	c.1860T>C	c.(1858-1860)tgT>tgC	p.C620C	CNTN1_ENST00000547702.1_Silent_p.C620C|CNTN1_ENST00000360099.3_Silent_p.C620C|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCCCCGTCTGTGCAAGCCTGC	0.418000													6	35					0	0	0.001168	0	0
OR7A5	26659	broad.mit.edu	37	19	14938756	14938756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:14938756G>T	ENST00000322301.3	-	2	385	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	OR7A5_ENST00000594432.1_Missense_Mutation_p.Q100K|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AAATACATCTGCATGAGGCAG	0.453000													22	102					3.8784e-16	6.37098e-16	0.001882	1	0
KIF21B	23046	broad.mit.edu	37	1	200961498	200961498	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:200961498A>T	ENST00000332129.2	-	16	2613	c.2297T>A	c.(2296-2298)aTg>aAg	p.M766K	KIF21B_ENST00000360529.5_Missense_Mutation_p.M766K|KIF21B_ENST00000461742.2_Missense_Mutation_p.M766K|KIF21B_ENST00000422435.2_Missense_Mutation_p.M766K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	766					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCACGCATCTGCTTCAT	0.642000													20	74					0	0	0.004656	0	0
TLR7	51284	broad.mit.edu	37	X	12904321	12904321	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:12904321C>G	ENST00000380659.3	+	3	833	c.694C>G	c.(694-696)Ctc>Gtc	p.L232V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.L232I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGAACTATATCTCTACAACAA	0.358000													12	50					0	0	0.001368	0	0
DEPTOR	64798	broad.mit.edu	37	8	121021283	121021283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:121021283G>T	ENST00000286234.5	+	8	1142	c.1012G>T	c.(1012-1014)Gtt>Ttt	p.V338F	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.V237F	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	338	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TGGTGACGCGGTTGGCTGGGG	0.547000													7	45					0.000274275	0.000319666	0.004482	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358197	99358197	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:99358197G>A	ENST00000408927.3	+	14	1787	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	RAP1GDS1_ENST00000339360.5_Silent_p.L559L|RAP1GDS1_ENST00000380158.4_Silent_p.L510L|RAP1GDS1_ENST00000408900.3_Silent_p.L509L|RAP1GDS1_ENST00000453712.2_Silent_p.L558L|RAP1GDS1_ENST00000264572.7_Silent_p.L467L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	558							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CCATGGTCCTGATATGTGCTC	0.323000			T	NUP98	T-ALL								5	25					0	0	0.000602	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957747	152957747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:152957747C>A	ENST00000307122.2	+	2	105	c.41C>A	c.(40-42)cCt>cAt	p.P14H	SPRR1A_ENST00000368762.1_Missense_Mutation_p.P14H	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	14	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCACCCCCTCAGCCTCAG	0.522000													45	120					5.2432e-18	8.9e-18	0.003610	1	0
PRMT10	90826	broad.mit.edu	37	4	148575513	148575513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:148575513T>A	ENST00000322396.6	-	9	1777	c.1535A>T	c.(1534-1536)gAt>gTt	p.D512V	PRMT10_ENST00000541232.1_Missense_Mutation_p.D399V|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	512						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CTCTACAGCATCTGGTTTACT	0.383000													26	46					0	0	0.004656	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160787	58160787	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:58160787T>C	ENST00000228606.4	-	1	247	c.38A>G	c.(37-39)cAt>cGt	p.H13R	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	13					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGGACGCGATGGAACACTCT	0.617000													24	132					0	0	0.003954	0	0
HEPH	9843	broad.mit.edu	37	X	65427105	65427105	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:65427105G>C	ENST00000519389.1	+	14	2701	c.2522G>C	c.(2521-2523)aGg>aCg	p.R841T	HEPH_ENST00000343002.2_Missense_Mutation_p.R787T|HEPH_ENST00000441993.2_Missense_Mutation_p.R790T|HEPH_ENST00000336279.5_Missense_Mutation_p.R520T|HEPH_ENST00000374727.3_Missense_Mutation_p.R790T|HEPH_ENST00000419594.1_Missense_Mutation_p.R598T			Q9BQS7	HEPH_HUMAN	hephaestin	787	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTGTATTCAGGGAATACACT	0.463000													22	51					0	0	0.002299	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035126	107035126	+	RNA	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:107035126C>G	ENST00000390626.2	-	0	95																											CCTTGGAGAACAGCCAGGAGG	0.577000													7	7					0	0	0.003080	0	0
ZNF195	7748	broad.mit.edu	37	11	3381280	3381280	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:3381280T>A	ENST00000354599.6	-	4	846	c.742A>T	c.(742-744)Att>Ttt	p.I248F	ZNF195_ENST00000005082.9_Missense_Mutation_p.I297F|ZNF195_ENST00000429541.2_Missense_Mutation_p.I252F|ZNF195_ENST00000343338.7_Missense_Mutation_p.I252F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Missense_Mutation_p.I320F|ZNF195_ENST00000526601.1_Missense_Mutation_p.I301F|ZNF195_ENST00000438262.2_3'UTR	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCGGCATAAATTCTATTTTTA	0.393000													19	105					0	0	0.006122	0	0
OR6K2	81448	broad.mit.edu	37	1	158669868	158669868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:158669868C>A	ENST00000359610.2	-	1	618	c.575G>T	c.(574-576)cGa>cTa	p.R192L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GACGATGGCTCGTGTGTCTGT	0.473000													28	70					7.41945e-09	1.0297e-08	0.005443	1	0
FGD1	2245	broad.mit.edu	37	X	54482964	54482964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:54482964G>A	ENST00000375135.3	-	9	2406	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	558	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCAGCATTCGAGTGCTCTGC	0.602000													4	46					0	0	0.001168	0	0
RASA3	22821	broad.mit.edu	37	13	114748770	114748770	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:114748770A>T	ENST00000334062.7	-	24	2614	c.2493T>A	c.(2491-2493)acT>acA	p.T831T	RASA3_ENST00000389544.4_Silent_p.T799T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	831					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAATGGAATGAGTGGAGGTCT	0.592000													24	59					0	0	0.002836	0	0
LILRB3	11025	broad.mit.edu	37	19	54721011	54721011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:54721011C>T	ENST00000391750.1	-	14	1983	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	LILRB3_ENST00000407860.2_Missense_Mutation_p.G633E|LILRB3_ENST00000245620.9_Missense_Mutation_p.G617E|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.G617E|LILRA6_ENST00000440558.2_Missense_Mutation_p.G616E|LILRA6_ENST00000270464.5_Missense_Mutation_p.G617E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G628E|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.G616E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	616					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGTTCCCCTTCCTGGGA	0.617000													11	63					0	0	0.008291	0	0
ZHX2	22882	broad.mit.edu	37	8	123965171	123965171	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:123965171A>C	ENST00000314393.4	+	3	2256	c.1421A>C	c.(1420-1422)gAg>gCg	p.E474A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGCTCATCGAGGTGACTGGC	0.562000													4	44					0	0	0.000248	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844441	12844441	+	Splice_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:12844441G>T	ENST00000379672.5	+	8	951	c.651_splice	c.e8+1	p.T217_splice	ARHGAP44_ENST00000262444.9_Splice_Site_p.T217_splice|ARHGAP44_ENST00000340825.3_Splice_Site_p.T217_splice	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	217	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTTTCAAACGGTAAGTGCCC	0.403000													22	29					2.21704e-12	3.35853e-12	0.002780	1	0
DNAH7	56171	broad.mit.edu	37	2	196729424	196729424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:196729424C>A	ENST00000312428.6	-	41	7055	c.6955G>T	c.(6955-6957)Gcc>Tcc	p.A2319S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2319	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCTCTATGGCAAATCGAAAC	0.448000													26	88					1.64293e-13	2.58343e-13	0.003330	1	0
CLK4	57396	broad.mit.edu	37	5	178050304	178050304	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:178050304T>C	ENST00000316308.4	-	2	282	c.114A>G	c.(112-114)caA>caG	p.Q38Q	CLK4_ENST00000520957.1_Silent_p.Q38Q	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	38						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GCCTGTTCTCTTGTGTGCTAC	0.388000													12	71					0	0	0.002450	0	0
CCKBR	887	broad.mit.edu	37	11	6292657	6292657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:6292657C>A	ENST00000525462.1	+	4	1438	c.1435C>A	c.(1435-1437)Ccc>Acc	p.P479T	CCKBR_ENST00000334619.2_Missense_Mutation_p.P410T|CCKBR_ENST00000532715.1_Missense_Mutation_p.P326T			P32239	GASR_HUMAN	cholecystokinin B receptor	410					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCGCTGCTGCCCCCGGCCTCC	0.642000													12	75					1.08611e-07	1.43801e-07	0.000978	1	0
ASTL	431705	broad.mit.edu	37	2	96789754	96789754	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:96789754A>G	ENST00000342380.2	-	9	1130	c.1131T>C	c.(1129-1131)ggT>ggC	p.G377G		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	377					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACCGGGGGCACCTGCTCCAG	0.627000													18	86					0	0	0.004990	0	0
ERCC5	2073	broad.mit.edu	37	13	103527858	103527858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:103527858C>T	ENST00000355739.4	+	15	4589	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Nonsense_Mutation_p.Q289*	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAAAAACCCAGAAGAGAGG	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	103					0	0	0.003330	0	0
IL21R	50615	broad.mit.edu	37	16	27460293	27460293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:27460293C>A	ENST00000337929.3	+	9	1779	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	IL21R_ENST00000395755.1_Missense_Mutation_p.P436T|IL21R_ENST00000564089.1_Missense_Mutation_p.P436T|IL21R_ENST00000395754.4_Missense_Mutation_p.P436T|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	436					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGGCAGCCCTGGGCTAGG	0.672000			T	BCL6	NHL								28	61					1.75199e-13	2.73541e-13	0.007291	1	0
ALS2	57679	broad.mit.edu	37	2	202611466	202611466	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:202611466G>A	ENST00000264276.6	-	9	2193	c.1821C>T	c.(1819-1821)agC>agT	p.S607S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	607					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATTTTCACTGCTTATCTGCA	0.443000													22	119					0	0	0.002299	0	0
HCN1	348980	broad.mit.edu	37	5	45262862	45262862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:45262862C>A	ENST00000303230.4	-	8	1891	c.1834G>T	c.(1834-1836)Ggt>Tgt	p.G612C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	612						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						TTGAAAACACCAGTGTTCAGA	0.413000													11	50					2.80697e-09	3.96208e-09	0.000978	1	0
LRP1B	53353	broad.mit.edu	37	2	141114000	141114000	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141114000T>A	ENST00000389484.3	-	75	12412	c.11441A>T	c.(11440-11442)gAt>gTt	p.D3814V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3814	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATGCATCATCTCCACATGG	0.338000										TSP Lung(27;0.18)			24	55					0	0	0.002780	0	0
DCDC1	341019	broad.mit.edu	37	11	30942330	30942330	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:30942330C>G	ENST00000597505.1	-	23	3285	c.3286G>C	c.(3286-3288)Gaa>Caa	p.E1096Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E175Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACAGAATTTCACTGGAAGCA	0.438000													12	27					0	0	0.001855	0	0
INTU	27152	broad.mit.edu	37	4	128577843	128577843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:128577843G>T	ENST00000335251.5	+	3	838	c.735G>T	c.(733-735)gaG>gaT	p.E245D	INTU_ENST00000296461.5_Missense_Mutation_p.E245D	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	245	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAACATCGAGAGAGTTCTGT	0.313000													14	31					1.99824e-07	2.61429e-07	0.004990	1	0
MUC16	94025	broad.mit.edu	37	19	9014562	9014562	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:9014562T>A	ENST00000397910.4	-	31	38616	c.38413A>T	c.(38413-38415)Acc>Tcc	p.T12805S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12807	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CTGTCCAGGGTGTAGGGACCC	0.557000													93	136					0	0	0.003610	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35940505	35940505	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:35940505T>C	ENST00000325722.3	-	5	1150	c.916A>G	c.(916-918)Ata>Gta	p.I306V		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	306						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTCCTTTATAACTGGAAAC	0.363000													5	53					0	0	0.000602	0	0
NLRP3	114548	broad.mit.edu	37	1	247588839	247588839	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:247588839C>A	ENST00000366497.2	+	4	2874	c.2094C>A	c.(2092-2094)ggC>ggA	p.G698G	NLRP3_ENST00000366496.2_Silent_p.G698G|NLRP3_ENST00000348069.2_Silent_p.G698G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.G698G|NLRP3_ENST00000391827.2_Silent_p.G698G|NLRP3_ENST00000391828.3_Silent_p.G698G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	698					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAAGGAAGGCCGACACCTTG	0.527000													8	37					0.000442599	0.000513136	0.006214	1	0
TGM7	116179	broad.mit.edu	37	15	43568737	43568737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:43568737C>A	ENST00000452443.2	-	13	2053	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	683					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAACCTGGAGCTGGCGGGGTC	0.582000													30	99					1.45844e-13	2.29877e-13	0.002836	1	0
SV2A	9900	broad.mit.edu	37	1	149877572	149877572	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:149877572G>A	ENST00000369146.3	-	12	2395	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	SV2A_ENST00000369145.1_Silent_p.S635S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	635					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGAGACACAGGACATCACGC	0.592000													12	49					0	0	0.001368	0	0
MCAM	4162	broad.mit.edu	37	11	119182596	119182596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:119182596C>T	ENST00000392814.1	-	5	1783	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	MCAM_ENST00000264036.4_Missense_Mutation_p.G403S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	403	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGATAGCCGCCTCCTGCCTCC	0.617000													51	75					0	0	0.003610	0	0
OR10G8	219869	broad.mit.edu	37	11	123901174	123901174	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:123901174T>C	ENST00000431524.1	+	1	878	c.845T>C	c.(844-846)cTc>cCc	p.L282P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACGCCCCTTCTCAACCCTGTT	0.498000													17	95					0	0	0.006122	0	0
EDAR	10913	broad.mit.edu	37	2	109524389	109524389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:109524389G>A	ENST00000409271.1	-	10	1429	c.986C>T	c.(985-987)tCc>tTc	p.S329F	EDAR_ENST00000258443.2_Missense_Mutation_p.S297F|EDAR_ENST00000376651.1_Missense_Mutation_p.S329F			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	297					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAGCTCCGGGGAGCCCTGCTT	0.617000													7	66					0	0	0.001984	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:133543152C>A	ENST00000409261.1	-	14	1605	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R411L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	411							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAACACTTTTCGCTTCTGTAG	0.413000													9	103					1.33987e-11	1.99325e-11	0.008291	1	0
NUP188	23511	broad.mit.edu	37	9	131750354	131750354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:131750354C>T	ENST00000372577.2	+	24	2443	c.2422C>T	c.(2422-2424)Cag>Tag	p.Q808*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	808					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGGGCAGGGCCAGCTGCTGAT	0.502000													37	138					0	0	0.005524	0	0
TIAM1	7074	broad.mit.edu	37	21	32638519	32638519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:32638519C>G	ENST00000286827.3	-	5	1241	c.770G>C	c.(769-771)tGt>tCt	p.C257S	TIAM1_ENST00000541036.1_Missense_Mutation_p.C257S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	257					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAATTCCGACAGTAGCCTGC	0.493000													39	77					0	0	0.008740	0	0
SCN5A	6331	broad.mit.edu	37	3	38645303	38645303	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38645303C>G	ENST00000413689.1	-	12	1983	c.1790G>C	c.(1789-1791)tGc>tCc	p.C597S	SCN5A_ENST00000423572.2_Missense_Mutation_p.C597S|SCN5A_ENST00000425664.1_Missense_Mutation_p.C597S|SCN5A_ENST00000414099.2_Missense_Mutation_p.C597S|SCN5A_ENST00000333535.4_Missense_Mutation_p.C597S|SCN5A_ENST00000451551.2_Missense_Mutation_p.C597S|SCN5A_ENST00000450102.2_Missense_Mutation_p.C597S|SCN5A_ENST00000449557.2_Missense_Mutation_p.C597S|SCN5A_ENST00000443581.1_Missense_Mutation_p.C597S|SCN5A_ENST00000455624.2_Missense_Mutation_p.C597S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	597					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACCCCATTGCAGTCCACAGT	0.667000													31	127					0	0	0.002096	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	21					0	0	0.000248	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328949	42328949	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:42328949G>C	ENST00000262418.6	-	18	2474	c.2319C>G	c.(2317-2319)tcC>tcG	p.S773S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	773	Membrane (anion exchange).		S -> P (in AR-dRTA; with normal red cell morphology).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATGAGGATGGACAGGCCTG	0.627000													11	34					0	0	0.000978	0	0
AFF3	3899	broad.mit.edu	37	2	100210239	100210239	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:100210239C>T	ENST00000317233.4	-	14	2119	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	AFF3_ENST00000356421.2_Silent_p.R653R|AFF3_ENST00000409579.1_Silent_p.R653R|AFF3_ENST00000409236.1_Silent_p.R628R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	628					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCCACAGGGCCTGGTTTTGG	0.721000													22	48					0	0	0.003330	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668324	160668324	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:160668324T>A	ENST00000366952.1	-	7	2267	c.786A>T	c.(784-786)atA>atT	p.I262I	SLC22A2_ENST00000366953.3_Silent_p.I283I|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	283					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGACTCAGGTATGCACCTAG	0.448000													6	61					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28420692	28420692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:28420692G>A	ENST00000261609.7	-	64	9905	c.9797C>T	c.(9796-9798)gCc>gTc	p.A3266V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3266					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGTGCAGGGCCCCGACAGC	0.642000													7	17					0	0	0.001984	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765838	27765838	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:27765838C>A	ENST00000451261.2	+	5	1225	c.826C>A	c.(826-828)Cag>Aag	p.Q276K		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TAATGTCTTCCAGGCCAAGTT	0.498000													10	14					1.76689e-08	2.42171e-08	0.006214	1	0
PUS7L	83448	broad.mit.edu	37	12	44124184	44124184	+	Missense_Mutation	SNP	C	C	A	rs142156360		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:44124184C>A	ENST00000416848.2	-	9	2589	c.2101G>T	c.(2101-2103)Gtt>Ttt	p.V701F	PUS7L_ENST00000551923.1_Missense_Mutation_p.V701F|PUS7L_ENST00000344862.5_Missense_Mutation_p.V701F|PUS7L_ENST00000431332.3_Missense_Mutation_p.V388F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	701					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CAGTTTTAAACGTCATGCTTC	0.373000													13	16					5.50884e-06	6.82931e-06	0.001368	1	0
ITGA9	3680	broad.mit.edu	37	3	37536030	37536030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:37536030C>T	ENST00000264741.5	+	5	839	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q195*	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	195					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CGGCTCCTGCCAGGCTGGGAT	0.517000													11	27					0	0	0.000978	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348293	30348293	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:30348293G>T	ENST00000327564.7	+	1	270	c.209G>T	c.(208-210)gGg>gTg	p.G70V	LRRC37B_ENST00000584368.1_Missense_Mutation_p.G55V|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G43V|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G43V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	43						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACCCCCTGGGGCCACCTGAG	0.622000													25	117					4.26978e-12	6.43871e-12	0.003330	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19560137	19560137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:19560137C>A	ENST00000397821.3	-	16	2088	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	SH3KBP1_ENST00000379716.1_Nonsense_Mutation_p.E362*|SH3KBP1_ENST00000541422.1_Nonsense_Mutation_p.E339*|SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.E563*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	600					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCCGCAGGCTCCATCTTTGGT	0.617000													15	127					3.35478e-16	5.52453e-16	0.003163	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608884	84608884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:84608884G>A	ENST00000344803.2	+	4	3546	c.3499G>A	c.(3499-3501)Gga>Aga	p.G1167R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGCAAGTCAGGAAGCTGCTC	0.413000													7	28					0	0	0.001984	0	0
ENPEP	2028	broad.mit.edu	37	4	111474593	111474593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:111474593G>T	ENST00000265162.5	+	18	2966	c.2624G>T	c.(2623-2625)tGg>tTg	p.W875L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	875					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAACTCAACTGGGACTATCTA	0.398000													38	68					3.43241e-23	6.10822e-23	0.002222	1	0
OR4A47	403253	broad.mit.edu	37	11	48510913	48510913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:48510913C>A	ENST00000446524.1	+	1	645	c.569C>A	c.(568-570)aCc>aAc	p.T190N		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGCACTGACACCCATGCTATT	0.438000													28	107					3.73148e-12	5.63981e-12	0.007291	1	0
QTRT1	81890	broad.mit.edu	37	19	10823446	10823446	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:10823446G>C	ENST00000250237.5	+	8	884	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	292					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTTGGCTCTGCCCTGGTGCC	0.622000													29	114					0	0	0.004878	0	0
KDR	3791	broad.mit.edu	37	4	55972944	55972944	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:55972944A>T	ENST00000263923.4	-	11	1741	c.1446T>A	c.(1444-1446)tgT>tgA	p.C482*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	482	Ig-like C2-type 5.		C -> R (in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced and KDR activity is increased compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation predicts to result in loss-of-function and disruption of the normal association of these molecules; dbSNP:rs34231037).		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTCTTCACAAGGGTATG	0.338000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	42					0	0	0.001168	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356475	140356475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140356475C>A	ENST00000406427.1	-	32	4000	c.3664G>T	c.(3664-3666)Ggg>Tgg	p.G1222W	PNPLA7_ENST00000277531.4_Missense_Mutation_p.G1197W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G803W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1197					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACCGTGCGCCCGTGCTGGTAG	0.672000													7	10					5.18039e-06	6.45842e-06	0.003080	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44260100	44260100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:44260100C>A	ENST00000315087.7	-	7	1696	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382C|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCGTGGAAGCCGGGACGCGGC	0.607000													30	47					2.47511e-08	3.37839e-08	0.008361	1	0
SGIP1	84251	broad.mit.edu	37	1	67195021	67195021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:67195021C>A	ENST00000371037.4	+	20	1894	c.1817C>A	c.(1816-1818)cCg>cAg	p.P606Q	SGIP1_ENST00000371035.3_Missense_Mutation_p.P396Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.P408Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P637Q|SGIP1_ENST00000435165.2_Missense_Mutation_p.P111Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P409Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	606					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCCAACAACCCGTCCCCAGCT	0.453000													36	92					4.11147e-13	6.34451e-13	0.003755	1	0
SPTBN5	51332	broad.mit.edu	37	15	42143102	42143102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:42143102G>T	ENST00000320955.6	-	66	11098	c.10871C>A	c.(10870-10872)cCg>cAg	p.P3624Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH.				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)		CTCTTCGGACGGTGCTGCAAA	0.682000													3	6					0.000602214	0.000695752	0.000602	1	0
SLC25A36	55186	broad.mit.edu	37	3	140692765	140692765	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:140692765G>T	ENST00000446041.2	+	6	885	c.660G>T	c.(658-660)gtG>gtT	p.V220V	SLC25A36_ENST00000324194.6_Silent_p.V220V|SLC25A36_ENST00000453248.2_Silent_p.V194V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	220					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAGAGTCTGTGAAAGAAGCAT	0.348000													14	18					4.3838e-07	5.65707e-07	0.001855	1	0
CECR1	51816	broad.mit.edu	37	22	17684454	17684454	+	Splice_Site	SNP	G	G	C	rs148936893		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:17684454G>C	ENST00000399839.1	-	4	1022	c.753_splice	c.e4+1	p.P251_splice	CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	251					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGCTCACCGGCAGCAGCCT	0.532000													8	28					0	0	0.003080	0	0
NOP56	10528	broad.mit.edu	37	20	2637485	2637485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:2637485G>C	ENST00000329276.5	+	10	1741	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	409	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GTCCTTCTATGAGACTGGAGA	0.512000													15	64					0	0	0.002450	0	0
C7	730	broad.mit.edu	37	5	40945382	40945382	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:40945382C>T	ENST00000313164.9	+	7	1009	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	217	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAACACACATCATCTAGTCGG	0.303000													5	29					0	0	0.000602	0	0
GPR31	2853	broad.mit.edu	37	6	167570401	167570401	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:167570401C>G	ENST00000366834.1	-	1	1416	c.919G>C	c.(919-921)Gca>Cca	p.A307P		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	307						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGGCTCTGCTGCCTGCCCT	0.557000													4	48					0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13885257	13885257	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:13885257T>A	ENST00000265104.4	-	19	2928	c.2824A>T	c.(2824-2826)Acg>Tcg	p.T942S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	942	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTTTCCTCGTGACTGTCGTC	0.418000									Kartagener syndrome				23	53					0	0	0.002780	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501930	90501930	+	Missense_Mutation	SNP	G	G	T	rs140371966		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:90501930G>T	ENST00000325643.5	+	4	2594	c.2528G>T	c.(2527-2529)tGt>tTt	p.C843F		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTAAGGTTCTGTGTGAGGCAC	0.577000													12	32					2.27111e-07	2.9596e-07	0.001368	1	0
GPR162	27239	broad.mit.edu	37	12	6933684	6933684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:6933684G>T	ENST00000311268.3	+	2	1407	c.620G>T	c.(619-621)tGg>tTg	p.W207L	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGACACTGTGGGCCCGGCCC	0.652000													14	77					2.61681e-11	3.87546e-11	0.002450	1	0
AMPD1	270	broad.mit.edu	37	1	115220608	115220608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:115220608C>A	ENST00000369538.3	-	8	1281	c.1234G>T	c.(1234-1236)Gga>Tga	p.G412*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.G383*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.G416*	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	383					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACTTGCTCCTACAGGATTA	0.423000													19	46					0.00074312	0.000855557	0.006122	1	0
F8	2157	broad.mit.edu	37	X	154197711	154197711	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:154197711G>T	ENST00000360256.4	-	7	1104	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	302	F5/8 type A 1.|Plastocyanin-like 2.		Missing (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGACGCCTGGCGATGGTTC	0.458000													51	129					1.21353e-23	2.17124e-23	0.003610	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:52733173C>G	ENST00000360540.5	-	7	1218	c.812G>C	c.(811-813)aGg>aCg	p.R271T	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423000													6	169					0	0	0.001984	0	0
DMWD	1762	broad.mit.edu	37	19	46289893	46289893	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:46289893G>C	ENST00000270223.6	-	3	906	c.861C>G	c.(859-861)ctC>ctG	p.L287L	DMWD_ENST00000377735.3_Silent_p.L287L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	287					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGAACTCGTTGAGGGGCCCCT	0.667000													4	35					0	0	0.000248	0	0
FLCN	201163	broad.mit.edu	37	17	17117142	17117142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:17117142T>A	ENST00000285071.4	-	14	2021	c.1567A>T	c.(1567-1569)Aag>Tag	p.K523*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	523					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGTCCACCTTGGTGAACTTA	0.522000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				33	93					0	0	0.003271	0	0
IRX1	79192	broad.mit.edu	37	5	3599534	3599534	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:3599534G>A	ENST00000302006.3	+	2	524	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	158						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						CCCCACCAAGGGCGAGAAGAT	0.637000													15	94					0	0	0.004990	0	0
MICAL3	57553	broad.mit.edu	37	22	18384718	18384718	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:18384718G>A	ENST00000441493.2	-	5	969	c.617C>T	c.(616-618)cCc>cTc	p.P206L	MICAL3_ENST00000383094.3_Missense_Mutation_p.P206L|MICAL3_ENST00000585038.1_Missense_Mutation_p.P206L|MICAL3_ENST00000400561.2_Missense_Mutation_p.P206L|MICAL3_ENST00000429452.1_Missense_Mutation_p.P206L|MICAL3_ENST00000207726.7_Missense_Mutation_p.P206L|MICAL3_ENST00000444520.1_Missense_Mutation_p.P206L|MICAL3_ENST00000414725.2_Missense_Mutation_p.P206L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATGAGTCTTGGGGTGCACCAG	0.532000													5	30					0	0	0.001168	0	0
FOXM1	2305	broad.mit.edu	37	12	2968029	2968029	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:2968029A>G	ENST00000342628.2	-	10	2294	c.2181T>C	c.(2179-2181)ttT>ttC	p.F727F	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.F689F|FOXM1_ENST00000361953.3_Silent_p.F674F	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	689					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAGAGTTGCCAAAGGGGACGG	0.567000													8	60					0	0	0.003080	0	0
TOR1B	27348	broad.mit.edu	37	9	132566477	132566477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:132566477G>T	ENST00000259339.2	+	2	385	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	109					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TTCCTTACACGGCTGGGCTGG	0.468000													20	77					1.56452e-12	2.37549e-12	0.007413	1	0
CEP104	9731	broad.mit.edu	37	1	3751513	3751513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:3751513T>A	ENST00000378230.3	-	11	1785	c.1461A>T	c.(1459-1461)agA>agT	p.R487S	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	487						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCTTTATGGCTCTTCTAACGA	0.502000													4	6					0	0	0.000602	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890121	23890121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:23890121C>A	ENST00000532292.1	-	1	1054	c.960G>T	c.(958-960)gaG>gaT	p.E320D		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTGGACCTCCCAGTCAC	0.612000													10	59					1.58986e-06	2.00474e-06	0.008291	1	0
MUC17	140453	broad.mit.edu	37	7	100696667	100696667	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:100696667G>C	ENST00000306151.4	+	11	13377	c.13313G>C	c.(13312-13314)aGt>aCt	p.S4438T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4438						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGAGGACAGTGGACCAGCT	0.463000													24	13					0	0	0.003954	0	0
PML	5371	broad.mit.edu	37	15	74337282	74337282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:74337282G>T	ENST00000565898.1	+	8	2522	c.2438G>T	c.(2437-2439)cGg>cTg	p.R813L	PML_ENST00000268058.3_Missense_Mutation_p.R861L			P29590	PML_HUMAN	promyelocytic leukemia	861					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCTGGCACGGGCAGAAGGA	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	66					9.70103e-10	1.38407e-09	0.008291	1	0
KRT34	3885	broad.mit.edu	37	17	39535834	39535834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:39535834C>G	ENST00000394001.1	-	4	894	c.864G>C	c.(862-864)tgG>tgC	p.W288C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	288	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCGTGGCGAACCATTGCTCCA	0.592000													17	127					0	0	0.004990	0	0
LNP1	348801	broad.mit.edu	37	3	100170692	100170692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:100170692G>A	ENST00000383693.3	+	3	1566	c.286G>A	c.(286-288)Gag>Aag	p.E96K	LNP1_ENST00000489752.1_Missense_Mutation_p.E109K	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	96										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTCATTCAAGGAGCCACTGGA	0.448000													14	60					0	0	0.004007	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005197	102005197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:102005197G>T	ENST00000372735.1	+	4	1859	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.G425V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G425V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	425						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCAATCTGGATTAAAGATA	0.388000													22	80					1.28384e-07	1.69303e-07	0.001882	1	0
MXRA5	25878	broad.mit.edu	37	X	3229500	3229500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:3229500C>A	ENST00000217939.6	-	7	6898	c.6744G>T	c.(6742-6744)aaG>aaT	p.K2248N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2248	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTTCTCCTCCTTGTGTTCAA	0.542000													39	74					1.7489e-18	2.98396e-18	0.002852	1	0
SLC9A7	84679	broad.mit.edu	37	X	46508189	46508189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:46508189G>T	ENST00000328306.4	-	11	1416	c.1391C>A	c.(1390-1392)tCc>tAc	p.S464Y		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	464					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAGGAAGAAGGAGAGCGGGTA	0.463000													28	46					9.80776e-20	1.69082e-19	0.006320	1	0
ZNF511	118472	broad.mit.edu	37	10	135165895	135165895	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:135165895T>A	ENST00000368554.4	+	8	906	c.884T>A	c.(883-885)gTg>gAg	p.V295E	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Missense_Mutation_p.V136E|PRAP1_ENST00000458230.1_Missense_Mutation_p.V127E|PRAP1_ENST00000423766.1_Missense_Mutation_p.V137E			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AATCACCAGGTGCTCCTGGGA	0.662000													12	66					0	0	0.003163	0	0
ANK2	287	broad.mit.edu	37	4	114274602	114274602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114274602G>T	ENST00000357077.4	+	38	4881	c.4828G>T	c.(4828-4830)Gaa>Taa	p.E1610*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1577*|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1577					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)		AGCACCTTTAGAAATCACTGA	0.403000													26	26					4.72057e-08	6.35166e-08	0.003954	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756459	94756459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:94756459G>T	ENST00000554723.1	-	2	1010	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	SERPINA10_ENST00000554173.1_Missense_Mutation_p.L158M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L158M|SERPINA10_ENST00000393096.1_Missense_Mutation_p.L158M			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	158					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTGAGGCCCAGTTCCAGGTTG	0.522000													29	41					9.65021e-13	1.4788e-12	0.002096	1	0
COL18A1	80781	broad.mit.edu	37	21	46896376	46896376	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:46896376A>T	ENST00000359759.4	+	5	2176	c.2155A>T	c.(2155-2157)Acg>Tcg	p.T719S	COL18A1_ENST00000355480.5_Missense_Mutation_p.T484S|COL18A1_ENST00000400337.2_Missense_Mutation_p.T304S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	719	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGCAGACCACGGTGGCTTC	0.572000													8	10					0	0	0.003080	0	0
MXRA8	54587	broad.mit.edu	37	1	1290644	1290644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:1290644C>A	ENST00000309212.6	-	4	488	c.458G>T	c.(457-459)cGc>cTc	p.R153L	MXRA8_ENST00000342753.4_Missense_Mutation_p.R52L|MXRA8_ENST00000445648.2_Missense_Mutation_p.R153L	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	153	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCTCCAGGCGGACGGCCAG	0.741000													9	23					3.07112e-06	3.85053e-06	0.000978	1	0
CSTF2	1478	broad.mit.edu	37	X	100078902	100078902	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:100078902G>C	ENST00000415585.2	+	5	494	c.472G>C	c.(472-474)Gca>Cca	p.A158P	CSTF2_ENST00000372972.2_Missense_Mutation_p.A158P|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	158	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCCCCAGGAGGCACGGAACAT	0.458000													36	101					0	0	0.003755	0	0
TEX14	56155	broad.mit.edu	37	17	56665328	56665328	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:56665328A>T	ENST00000389934.3	-	16	2748	c.2631T>A	c.(2629-2631)agT>agA	p.S877R	TEX14_ENST00000349033.5_Missense_Mutation_p.S877R|TEX14_ENST00000240361.8_Missense_Mutation_p.S883R	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	883						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGAGTGcactattaaact	0.493000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	56					0	0	0.000978	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319288	130319288	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:130319288C>T	ENST00000299164.2	+	1	420	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCGCTGCCCAATGCTAGCG	0.706000													23	34					0	0	0.002299	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868938	22868938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:22868938G>T	ENST00000302097.3	-	2	1269	c.1017C>A	c.(1015-1017)tgC>tgA	p.C339*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGCCGGTGGCAGTGCTGGC	0.458000													32	92					3.93418e-24	7.07725e-24	0.004289	1	0
SETBP1	26040	broad.mit.edu	37	18	42531648	42531648	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:42531648A>G	ENST00000282030.5	+	4	2639	c.2343A>G	c.(2341-2343)acA>acG	p.T781T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	781						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTTTCAACACAGTTAGGTG	0.522000									Schinzel-Giedion syndrome				36	32					0	0	0.004289	0	0
INTU	27152	broad.mit.edu	37	4	128626894	128626894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:128626894G>T	ENST00000335251.5	+	11	1818	c.1715G>T	c.(1714-1716)cGa>cTa	p.R572L	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	572										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CATCACCTCCGACCTTTGGCA	0.448000													46	79					7.05377e-20	1.21922e-19	0.003610	1	0
CUL4A	8451	broad.mit.edu	37	13	113887578	113887578	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:113887578C>T	ENST00000451881.1	+	6	549	c.300C>T	c.(298-300)atC>atT	p.I100I	CUL4A_ENST00000326335.4_Silent_p.I100I|CUL4A_ENST00000375440.4_Silent_p.I200I|CUL4A_ENST00000375441.3_Silent_p.I100I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	200					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TACTGCTGATCGAGCGCGAGA	0.512000													7	64					0	0	0.001984	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879006	12879006	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:12879006A>G	ENST00000524591.2	+	5	1307	c.818A>G	c.(817-819)aAc>aGc	p.N273S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	273							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCTTGAAAAACACAGAAGTT	0.418000													20	52					0	0	0.008871	0	0
M1AP	130951	broad.mit.edu	37	2	74802690	74802690	+	Missense_Mutation	SNP	C	C	T	rs140179344		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74802690C>T	ENST00000290536.5	-	7	1065	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.G35R|M1AP_ENST00000409585.1_Missense_Mutation_p.G317R|M1AP_ENST00000536235.1_Missense_Mutation_p.G317R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TCGCAGAGCCCGCTAGATTTT	0.448000													14	103					0	0	0.003163	0	0
GIPC2	54810	broad.mit.edu	37	1	78546513	78546513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:78546513C>A	ENST00000370759.3	+	2	588	c.395C>A	c.(394-396)aCa>aAa	p.T132K	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	132	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CTCACCATTACAGATAATGGT	0.338000													16	39					1.15088e-07	1.52072e-07	0.004007	1	0
ATP1A2	477	broad.mit.edu	37	1	160111106	160111106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:160111106C>A	ENST00000361216.3	+	23	3146	c.3057C>A	c.(3055-3057)taC>taA	p.Y1019*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.Y1008*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1019					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGGAGACATACTACTGACCCC	0.512000													13	55					0.000151284	0.00017884	0.001855	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359046	64359046	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:64359046C>G	ENST00000377574.1	+	1	765	c.18C>G	c.(16-18)ctC>ctG	p.L6L	SLC22A12_ENST00000377572.1_Silent_p.L6L|SLC22A12_ENST00000377567.2_Silent_p.L6L|SLC22A12_ENST00000336464.7_Silent_p.L6L|SLC22A12_ENST00000473690.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	6					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTTCTGAACTCCTGGACCTCG	0.592000													29	128					0	0	0.008361	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294720	110294720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:110294720G>C	ENST00000369805.3	-	15	1563	c.1334C>G	c.(1333-1335)tCc>tGc	p.S445C	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S414C|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S444C	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	444						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTTGGGGCTGGAGGGCCTGGA	0.572000													32	210					0	0	0.002836	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912052	101912052	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:101912052C>G	ENST00000537097.1	+	6	4024	c.3211C>G	c.(3211-3213)Ccg>Gcg	p.P1071A	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1071A|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1071A|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1071A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTAGATTTCCGAAAGAGGC	0.512000													104	189					0	0	0.003610	0	0
OR5T2	219464	broad.mit.edu	37	11	55999734	55999734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55999734C>T	ENST00000313264.4	-	1	1003	c.928G>A	c.(928-930)Gac>Aac	p.D310N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACTATCATGTCATGGTCCGAA	0.398000													22	83					0	0	0.002299	0	0
DCDC1	341019	broad.mit.edu	37	11	31086701	31086701	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:31086701C>A	ENST00000597505.1	-	17	2298		c.e17-1		DCDC1_ENST00000437348.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGGATAAGCCTGTAAGAAAG	0.393000													13	28					0.00185496	0.00211721	0.001855	1	0
BRIP1	83990	broad.mit.edu	37	17	59938841	59938841	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:59938841T>C	ENST00000259008.2	-	2	327	c.60A>G	c.(58-60)aaA>aaG	p.K20K	BRIP1_ENST00000577598.1_Silent_p.K20K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	20	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACGGGTAAGCTTTATAAGGAA	0.328000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					18	41					0	0	0.007413	0	0
SCML1	6322	broad.mit.edu	37	X	17768022	17768022	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:17768022T>C	ENST00000380043.3	+	5	559	c.231T>C	c.(229-231)taT>taC	p.Y77Y	SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380041.3_Silent_p.Y104Y|SCML1_ENST00000380045.3_5'UTR	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	104					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGAAGCGATATGGATATAAAA	0.318000													53	81					0	0	0.003610	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350926	50350926	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:50350926G>A	ENST00000376020.2	-	6	3241	c.3216C>T	c.(3214-3216)gcC>gcT	p.A1072A	SHROOM4_ENST00000289292.7_Silent_p.A1072A|SHROOM4_ENST00000460112.3_Silent_p.A956A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1072					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGCCCCCAGGCCCGGGTGC	0.617000													23	45					0	0	0.002780	0	0
GPR142	350383	broad.mit.edu	37	17	72368049	72368049	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72368049G>T	ENST00000335666.4	+	4	747	c.699G>T	c.(697-699)acG>acT	p.T233T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	233						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGGTGCGCACGGCCAACATCC	0.642000													9	25					0.000274275	0.000319666	0.004482	1	0
ATP5B	506	broad.mit.edu	37	12	57033788	57033788	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:57033788G>A	ENST00000262030.3	-	8	1313	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	ATP5B_ENST00000552919.1_Silent_p.A410A|ATP5B_ENST00000550162.1_5'UTR	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	421					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCCACGGGCAACATCGT	0.502000													13	59					0	0	0.002450	0	0
MYH6	4624	broad.mit.edu	37	14	23869595	23869595	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:23869595T>A	ENST00000405093.3	-	14	1521	c.1451A>T	c.(1450-1452)gAg>gTg	p.E484V	MYH6_ENST00000356287.3_Missense_Mutation_p.E484V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	484	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCAGCTTCTCGTTGGTGAA	0.537000													26	37					0	0	0.004656	0	0
MED14	9282	broad.mit.edu	37	X	40562805	40562805	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:40562805T>A	ENST00000324817.1	-	11	1420	c.1302A>T	c.(1300-1302)gcA>gcT	p.A434A		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	434	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTGGGAGTGCAGTCTCTA	0.338000													12	20					0	0	0.001368	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347960	38347960	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38347960G>T	ENST00000273173.4	+	1	534	c.443G>T	c.(442-444)gGc>gTc	p.G148V	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G148V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	148						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATCCAGTTTGGCCTCAATGAC	0.478000													37	106					5.71845e-15	9.23321e-15	0.005524	1	0
CRIM1	51232	broad.mit.edu	37	2	36744655	36744655	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:36744655A>T	ENST00000280527.2	+	12	2543	c.2176A>T	c.(2176-2178)Acc>Tcc	p.T726S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	726	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCCCTCACGCACCCAGGATTC	0.597000													22	69					0	0	0.003330	0	0
MED12L	116931	broad.mit.edu	37	3	151101949	151101949	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:151101949C>A	ENST00000474524.1	+	33	4802	c.4764C>A	c.(4762-4764)tcC>tcA	p.S1588S	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.S1448S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1588					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATGCATCCCCTGGGGGAT	0.358000													22	33					5.49717e-05	6.60458e-05	0.003330	1	0
DDX60	55601	broad.mit.edu	37	4	169196580	169196580	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:169196580C>G	ENST00000393743.3	-	16	2511	c.2220G>C	c.(2218-2220)ctG>ctC	p.L740L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	740							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCATGTATTGCAGTTGGAACC	0.403000													13	33					0	0	0.001855	0	0
TTC37	9652	broad.mit.edu	37	5	94863776	94863776	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:94863776C>T	ENST00000358746.2	-	13	1373	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	359							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTAATCAAAGCCTCTGCTTTC	0.378000													14	27					0	0	0.003163	0	0
HLTF	6596	broad.mit.edu	37	3	148789207	148789207	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:148789207T>A	ENST00000310053.5	-	7	919	c.726A>T	c.(724-726)ccA>ccT	p.P242P	HLTF_ENST00000494055.1_Silent_p.P242P|HLTF_ENST00000392912.2_Silent_p.P242P|HLTF_ENST00000465259.1_Silent_p.P242P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	242					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTTTGATGTGGAAGCAGTG	0.358000													12	21					0	0	0.004007	0	0
OR10W1	81341	broad.mit.edu	37	11	58035220	58035220	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:58035220C>A	ENST00000395079.2	-	1	512	c.111G>T	c.(109-111)gtG>gtT	p.V37V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAATGGACACCACAATGAGAA	0.493000													10	62					0.000442599	0.000513136	0.006214	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857957	9857957	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:9857957C>T	ENST00000396573.2	-	14	3753	c.3444G>A	c.(3442-3444)ccG>ccA	p.P1148P	GRIN2A_ENST00000330684.3_Silent_p.P1148P|GRIN2A_ENST00000404927.2_Silent_p.P1148P|GRIN2A_ENST00000396575.2_Silent_p.P1148P|GRIN2A_ENST00000562109.1_Silent_p.P1148P|GRIN2A_ENST00000535259.1_Silent_p.P991P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1148					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGGGGTCCGGGAAGTCCA	0.527000													50	124					0	0	0.003610	0	0
DQX1	165545	broad.mit.edu	37	2	74751353	74751353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74751353C>A	ENST00000404568.3	-	4	732	c.513G>T	c.(511-513)gaG>gaT	p.E171D	DQX1_ENST00000393951.2_Missense_Mutation_p.E171D|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	171	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTCCTGAGCCTCATCTAGTA	0.597000													19	129					1.15919e-05	1.42371e-05	0.008871	1	0
SCN5A	6331	broad.mit.edu	37	3	38598729	38598729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38598729G>A	ENST00000413689.1	-	24	4485	c.4292C>T	c.(4291-4293)tCc>tTc	p.S1431F	SCN5A_ENST00000423572.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1431F|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1430F|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1430F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1431					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TACCCCCCTGGAGTCCACAGC	0.502000													5	55					0	0	0.004482	0	0
COL18A1	80781	broad.mit.edu	37	21	46901927	46901927	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:46901927G>A	ENST00000359759.4	+	13	2928	c.2907G>A	c.(2905-2907)caG>caA	p.Q969Q	COL18A1_ENST00000355480.5_Silent_p.Q734Q|COL18A1_ENST00000400337.2_Silent_p.Q554Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	969	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGACTGGGCAGAAAGGCAGCC	0.647000													7	33					0	0	0.004482	0	0
SBDS	51119	broad.mit.edu	37	7	66456250	66456250	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:66456250C>G	ENST00000246868.2	-	4	681	c.498G>C	c.(496-498)aaG>aaC	p.K166N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	166					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CACGTTCTATCTTCATTTTCT	0.373000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				4	30					0	0	0.000602	0	0
P2RY8	286530	broad.mit.edu	37	X	1584790	1584790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:1584790A>T	ENST00000381297.4	-	2	872	c.662T>A	c.(661-663)tTg>tAg	p.L221*		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	221						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)				CTCCGTGCGCAACAGCTTGAG	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""								12	26					0	0	0.000978	0	0
SETDB2	83852	broad.mit.edu	37	13	50034254	50034254	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:50034254A>G	ENST00000354234.4	+	3	934	c.28A>G	c.(28-30)Act>Gct	p.T10A	SETDB2_ENST00000317257.8_Missense_Mutation_p.T10A|SETDB2_ENST00000258672.5_Missense_Mutation_p.T10A	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	10					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CGATGCAAAAACTTTCTGGAT	0.328000													50	108					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762527	77762527	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:77762527C>G	ENST00000521891.2	+	9	4341	c.3893C>G	c.(3892-3894)gCa>gGa	p.A1298G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1272G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1253G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1253G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1253						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACTGCCAGCAGCTGCCTCT	0.478000										HNSCC(33;0.089)			3	17					0	0	0.004672	0	0
BRDT	676	broad.mit.edu	37	1	92441925	92441925	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:92441925A>G	ENST00000370389.2	+	5	1253	c.329A>G	c.(328-330)aAg>aGg	p.K110R	BRDT_ENST00000402388.1_Missense_Mutation_p.K183R|BRDT_ENST00000399546.2_Missense_Mutation_p.K183R|BRDT_ENST00000362005.3_Missense_Mutation_p.K183R|BRDT_ENST00000394530.3_Missense_Mutation_p.K137R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	183	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTATTTCCTAAGACATCTATT	0.388000													19	45					0	0	0.007413	0	0
LPAR4	2846	broad.mit.edu	37	X	78010848	78010848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:78010848G>A	ENST00000435339.2	+	2	887	c.482G>A	c.(481-483)gGt>gAt	p.G161D	LPAR4_ENST00000373301.2_Missense_Mutation_p.G161D	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	161						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGTGTGCTGGTGTCTGGATC	0.458000													40	93					0	0	0.005524	0	0
FDXR	2232	broad.mit.edu	37	17	72860303	72860303	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72860303T>A	ENST00000455107.2	-	10	1253	c.837A>T	c.(835-837)gcA>gcT	p.A279A	FDXR_ENST00000413947.2_Silent_p.A354A|FDXR_ENST00000581530.1_Silent_p.A329A|FDXR_ENST00000293195.5_Silent_p.A323A|FDXR_ENST00000583917.1_Silent_p.A295A|FDXR_ENST00000442102.2_Silent_p.A366A|FDXR_ENST00000420580.2_Silent_p.A283A|FDXR_ENST00000582944.1_Silent_p.A315A|FDXR_ENST00000544854.1_Silent_p.A271A			P22570	ADRO_HUMAN	ferredoxin reductase	323					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACACCTGCTGCCCGCCGCC	0.667000													8	49					0	0	0.004482	0	0
DCLK1	9201	broad.mit.edu	37	13	36410270	36410270	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:36410270C>T	ENST00000255448.4	-	8	1340	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K|DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	377					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAGCCTTCCTCCGACACTTCT	0.358000													31	95					0	0	0.002836	0	0
ZNF613	79898	broad.mit.edu	37	19	52447603	52447603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:52447603G>T	ENST00000293471.6	+	6	1146	c.467G>T	c.(466-468)gGg>gTg	p.G156V	ZNF613_ENST00000391794.4_Missense_Mutation_p.G120V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATTCTGTGGGGGTTAATGGA	0.348000													18	85					1.99824e-07	2.61429e-07	0.004990	1	0
MAPK14	1432	broad.mit.edu	37	6	36075254	36075254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:36075254G>T	ENST00000229795.3	+	11	1311	c.864G>T	c.(862-864)atG>atT	p.M288I	MAPK14_ENST00000229794.4_Missense_Mutation_p.M288I|MAPK14_ENST00000468133.1_Missense_Mutation_p.M211I|MAPK14_ENST00000310795.4_Missense_Mutation_p.C262F	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	288	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGGAGAAGATGCTTGTATTGG	0.433000													59	96					1.37693e-34	2.56048e-34	0.003610	1	0
LVRN	206338	broad.mit.edu	37	5	115298444	115298444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:115298444C>T	ENST00000357872.4	+	1	254	c.130C>T	c.(130-132)Cca>Tca	p.P44S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		44					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CGAGCGCGTCCCACCGTCGGA	0.697000													10	11					0	0	0.006214	0	0
ZNF746	155061	broad.mit.edu	37	7	149191310	149191310	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:149191310C>T	ENST00000461958.2	-	2	505	c.309G>A	c.(307-309)aaG>aaA	p.K103K	ZNF746_ENST00000458143.2_Silent_p.K103K|ZNF746_ENST00000340622.3_Silent_p.K103K			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	103	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGACTCCCCCTTGCTGCCCG	0.652000													94	87					0	0	0.003610	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302634	87302634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:87302634G>A	ENST00000263780.4	+	5	743	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CHMP2B_ENST00000494980.1_Missense_Mutation_p.E139K|CHMP2B_ENST00000471660.1_Missense_Mutation_p.E128K	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	169					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGTTCTTGATGAAATTGGAAT	0.358000													9	24					0	0	0.006214	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770121	135770121	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:135770121C>T	ENST00000250617.6	-	11	2420	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	ARHGEF6_ENST00000370622.1_Silent_p.L251L|ARHGEF6_ENST00000535227.1_Silent_p.L278L|ARHGEF6_ENST00000370620.1_Silent_p.L251L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	405	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CGATTGCTTTCAGAATATCCT	0.378000													8	147					0	0	0.003080	0	0
AZI1	22994	broad.mit.edu	37	17	79164719	79164719	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:79164719C>A	ENST00000269392.4	-	23	3187	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D	AZI1_ENST00000374782.3_Missense_Mutation_p.E941D|AZI1_ENST00000450824.2_Missense_Mutation_p.E977D|AZI1_ENST00000575907.1_Missense_Mutation_p.E944D	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	980					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTGCGCATCCTCCAGCGCCC	0.701000													6	49					2.0095e-06	2.50525e-06	0.001984	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183195	39183195	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:39183195G>A	ENST00000361883.5	-	1	259	c.213C>T	c.(211-213)tgC>tgT	p.C71C		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	71	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTTGGCTGGCAGCAGCTGG	0.612000													21	63					0	0	0.008871	0	0
PKP1	5317	broad.mit.edu	37	1	201294192	201294192	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:201294192A>T	ENST00000263946.3	+	12	2272	c.2021A>T	c.(2020-2022)cAa>cTa	p.Q674L	PKP1_ENST00000367324.3_Missense_Mutation_p.Q653L|PKP1_ENST00000352845.3_Missense_Mutation_p.Q674L	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	674					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCGCAGCCACAACTGGCCAAG	0.592000													37	158					0	0	0.006230	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801049	185801049	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:185801049C>A	ENST00000302277.6	+	4	1520	c.926C>A	c.(925-927)cCt>cAt	p.P309H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	309						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTATTACCTTCATTTTGC	0.343000													9	27					0.000274275	0.00031743	0.004482	1	0
ATP7B	540	broad.mit.edu	37	13	52544664	52544664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:52544664C>A	ENST00000242839.4	-	3	1663	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ATP7B_ENST00000448424.2_Missense_Mutation_p.V503L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V392L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V503L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V503L|ATP7B_ENST00000542656.1_Missense_Mutation_p.V471L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	503	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATGTTAGACACACAGGATGCA	0.488000									Wilson disease				40	160					1.03484e-13	1.61953e-13	0.005524	1	0
IMPG1	3617	broad.mit.edu	37	6	76715160	76715160	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:76715160A>G	ENST00000369950.3	-	10	1168	c.979T>C	c.(979-981)Tcc>Ccc	p.S327P	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	327	SEA 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)				ATTTTGTTGGAATCAAAAGAC	0.448000													4	68					0	0	0.000248	0	0
DNAH1	25981	broad.mit.edu	37	3	52403852	52403852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:52403852G>T	ENST00000420323.2	+	38	6216	c.5955G>T	c.(5953-5955)atG>atT	p.M1985I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1985	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAATGACCATGATGTTCGAGG	0.622000													16	33					0.00400662	0.00451086	0.004007	1	0
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:153880627G>A	ENST00000247306.4	-	2	611	c.548C>T	c.(547-549)cCa>cTa	p.P183L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	183	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CGGCGGGCCTGGTGTACCAGG	0.607000													42	116					0	0	0.008740	0	0
C2orf78	388960	broad.mit.edu	37	2	74040627	74040627	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:74040627C>T	ENST00000409561.1	+	2	242	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	41	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TACGTCTTTACCTGGAACTGC	0.423000													6	20					0	0	0.001168	0	0
IGHE	3497	broad.mit.edu	37	14	106066439	106066439	+	RNA	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:106066439G>T	ENST00000577108.1	-	0	107				IGHE_ENST00000576077.1_RNA																							CTCGCTGGACGGTCTGTGAGG	0.607000													26	58					2.65835e-16	4.34525e-16	0.007291	1	0
XPC	7508	broad.mit.edu	37	3	14220052	14220052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:14220052G>A	ENST00000285021.7	-	1	231	c.17C>T	c.(16-18)gCg>gTg	p.A6V	XPC_ENST00000449060.2_Missense_Mutation_p.A6V|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCGGCCGCGCGTTTCCG	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	46					0	0	0.008291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776202	77776202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:77776202G>A	ENST00000521891.2	+	11	10700	c.10252G>A	c.(10252-10254)Gca>Aca	p.A3418T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3373T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3369T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3392T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3369						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAGACGCCGCAGTAAATCA	0.423000										HNSCC(33;0.089)			7	23					0	0	0.001984	0	0
CCDC120	90060	broad.mit.edu	37	X	48920062	48920062	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:48920062G>C	ENST00000376396.3	+	4	332	c.113G>C	c.(112-114)cGg>cCg	p.R38P	CCDC120_ENST00000422185.2_Missense_Mutation_p.R38P|CCDC120_ENST00000603986.1_Missense_Mutation_p.R73P|CCDC120_ENST00000597275.1_Missense_Mutation_p.R38P|CCDC120_ENST00000536628.2_Missense_Mutation_p.R26P|CCDC120_ENST00000496529.2_Missense_Mutation_p.R38P	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	38							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTGCTTGACCGGCAGCGGACC	0.652000													21	34					0	0	0.001523	0	0
TECPR1	25851	broad.mit.edu	37	7	97870247	97870247	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:97870247G>A	ENST00000447648.2	-	8	1148	c.849C>T	c.(847-849)atC>atT	p.I283I	TECPR1_ENST00000542604.1_Silent_p.I213I|TECPR1_ENST00000379795.3_Silent_p.I283I			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	283						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCTCCACGATGGACCAGG	0.612000													9	4					0	0	0.006214	0	0
MICAL3	57553	broad.mit.edu	37	22	18301796	18301796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:18301796C>A	ENST00000441493.2	-	26	3983	c.3631G>T	c.(3631-3633)Gat>Tat	p.D1211Y		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1211	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGGGGGCATCAGCTTTGGGC	0.622000													7	24					1.06961e-07	1.41053e-07	0.003080	1	0
EYS	346007	broad.mit.edu	37	6	66112371	66112371	+	Splice_Site	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:66112371C>G	ENST00000503581.1	-	7	1721	c.1184_splice	c.e7+1	p.S395_splice	EYS_ENST00000393380.2_Splice_Site_p.S395_splice|EYS_ENST00000370616.2_Splice_Site_p.S395_splice|EYS_ENST00000370618.3_Splice_Site_p.S395_splice|EYS_ENST00000370621.3_Splice_Site_p.S395_splice|EYS_ENST00000342421.5_Splice_Site_p.S395_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	395	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTAATTATACCTGCAAGGATA	0.274000													3	18					0	0	0.004672	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571804	101571804	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:101571804A>G	ENST00000326172.5	+	4	650	c.535A>G	c.(535-537)Agg>Ggg	p.R179G	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R179G|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R79G	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGCTTGCAAAAGGCCAGCTCT	0.423000													15	69					0	0	0.002450	0	0
TPGS2	25941	broad.mit.edu	37	18	34385371	34385371	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:34385371G>A	ENST00000334295.4	-	4	775	c.348C>T	c.(346-348)ccC>ccT	p.P116P	TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000589049.1_Silent_p.P116P|TPGS2_ENST00000590842.1_Silent_p.P116P|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000587129.1_Silent_p.P116P	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	116						cytoplasm|microtubule											CTGCCAGAGTGGGTGCATTAG	0.493000													41	66					0	0	0.002522	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40269028	40269028	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:40269028C>G	ENST00000263791.5	+	12	2275	c.2232C>G	c.(2230-2232)gtC>gtG	p.V744V	EIF2AK4_ENST00000382727.2_Silent_p.V744V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	744	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGGTGGCGTCTTCTCCCAGT	0.607000													9	64					0	0	0.008291	0	0
AP4E1	23431	broad.mit.edu	37	15	51250970	51250970	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:51250970C>T	ENST00000261842.5	+	14	1936	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	AP4E1_ENST00000560508.1_Silent_p.D535D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	610					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCCAGTTGACAGGAGTTGTG	0.348000													11	49					0	0	0.000978	0	0
RFC3	5983	broad.mit.edu	37	13	34404941	34404941	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:34404941G>T	ENST00000380071.3	+	6	789	c.659G>T	c.(658-660)tGt>tTt	p.C220F	RFC3_ENST00000434425.1_Missense_Mutation_p.C220F	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	220					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAGAAGTCTTGTAGAAATCTC	0.428000													9	49					6.40141e-05	7.59451e-05	0.000978	1	0
FOXO4	4303	broad.mit.edu	37	X	70321243	70321243	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:70321243C>A	ENST00000374259.3	+	2	1495	c.1163C>A	c.(1162-1164)cCc>cAc	p.P388H	FOXO4_ENST00000341558.3_Missense_Mutation_p.P333H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	388					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CAGGTAGATCCCATTCTGTCC	0.637000													23	67					1.10513e-12	1.67414e-12	0.002299	1	0
DKC1	1736	broad.mit.edu	37	X	153993755	153993755	+	Nonsense_Mutation	SNP	G	G	T	rs121912302		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:153993755G>T	ENST00000369550.5	+	3	331	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	41			E -> K (in XDKC; dbSNP:rs121912302).		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATCAAACCTGAATCCAAAGT	0.388000									Congenital Dyskeratosis				62	189					6.25564e-26	1.1284e-25	0.003610	1	0
RBM10	8241	broad.mit.edu	37	X	47045727	47045727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:47045727G>T	ENST00000377604.3	+	23	3350	c.2608G>T	c.(2608-2610)Ggc>Tgc	p.G870C	RBM10_ENST00000345781.6_Missense_Mutation_p.G793C|RBM10_ENST00000329236.7_Missense_Mutation_p.G792C|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	870	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGGCCATGGGCTGGAAAGA	0.637000													6	7					2.0095e-06	2.50525e-06	0.001984	1	0
IGF1R	3480	broad.mit.edu	37	15	99251273	99251273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:99251273G>A	ENST00000268035.6	+	2	1188	c.577G>A	c.(577-579)Gag>Aag	p.E193K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E193K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	193					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGATGTGTGAGAAGACCAC	0.517000													5	63					0	0	0.001984	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005196	102005196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:102005196G>T	ENST00000372735.1	+	4	1858	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.G425*			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	425						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCAATCTGGATTAAAGAT	0.383000													21	78					1.2644e-06	1.59435e-06	0.001523	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781554	128781554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:128781554G>T	ENST00000529694.1	+	2	762	c.386G>T	c.(385-387)tGt>tTt	p.C129F	KCNJ5_ENST00000533599.1_Missense_Mutation_p.C129F|KCNJ5_ENST00000338350.4_Missense_Mutation_p.C129F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	129					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGATTCCTTGTGTTGAAAAC	0.502000													42	82					1.52319e-26	2.7626e-26	0.008740	1	0
SPTB	6710	broad.mit.edu	37	14	65239306	65239306	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:65239306C>A	ENST00000389722.3	-	25	5598	c.5545G>T	c.(5545-5547)Ggt>Tgt	p.G1849C	SPTB_ENST00000542895.1_Missense_Mutation_p.G1849C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1849C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1849C|SPTB_ENST00000556626.1_Missense_Mutation_p.G1849C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1849					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTGGACACCCAGCAGGTGG	0.667000													13	12					3.27435e-08	4.41471e-08	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179435842	179435842	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:179435842G>A	ENST00000589042.1	-	326	75241	c.75017C>T	c.(75016-75018)cCa>cTa	p.P25006L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16133L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23365L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15941L|TTN_ENST00000342992.6_Missense_Mutation_p.P22438L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16066L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23365	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATCACATGGGTCACGAGC	0.468000													8	165					0	0	0.003080	0	0
GPX5	2880	broad.mit.edu	37	6	28497230	28497230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:28497230G>T	ENST00000412168.2	+	2	179	c.90G>T	c.(88-90)atG>atT	p.M30I	GPX5_ENST00000469384.1_Missense_Mutation_p.M30I|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	30					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCTTCCAGATGGATTGCCACA	0.368000													29	40					3.86903e-22	6.72256e-22	0.002836	1	0
APLNR	187	broad.mit.edu	37	11	57004438	57004438	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:57004438T>A	ENST00000606794.1	-	1	237	c.41A>T	c.(40-42)gAc>gTc	p.D14V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	14						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGACTGGTTGTCTGCCCCATA	0.582000													27	50					0	0	0.006320	0	0
GPR25	2848	broad.mit.edu	37	1	200843050	200843050	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:200843050G>T	ENST00000304244.2	+	1	968	c.885G>T	c.(883-885)ctG>ctT	p.L295L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	295						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCACCTGCCTGGCCTTCGTCA	0.746000													28	60					8.4185e-14	1.32063e-13	0.002445	1	0
TRPC4	7223	broad.mit.edu	37	13	38320488	38320488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:38320488C>A	ENST00000379705.3	-	3	1340	c.483G>T	c.(481-483)ttG>ttT	p.L161F	TRPC4_ENST00000379681.3_Missense_Mutation_p.L161F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L161F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.L161F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.L161F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L161F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	161	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTCTGAACCAAGAGTTTTA	0.463000													36	112					3.78316e-11	5.52859e-11	0.006230	1	0
TTN	7273	broad.mit.edu	37	2	179396333	179396333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:179396333G>T	ENST00000589042.1	-	358	105233	c.105009C>A	c.(105007-105009)gaC>gaA	p.D35003E	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26130E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33362E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25938E|TTN_ENST00000342992.6_Missense_Mutation_p.D32435E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26063E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATGACAGTCCAGAATTT	0.488000													27	45					1.39806e-14	2.23015e-14	0.008361	1	0
ATP13A4	84239	broad.mit.edu	37	3	193176992	193176992	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:193176992C>A	ENST00000342695.4	-	14	1874	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G499C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G518C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	518					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAAGCCTGGCCTGAGGCAAAG	0.532000													11	66					7.03913e-09	9.7284e-09	0.001368	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	8					8.12818e-05	9.60868e-05	0.001984	1	0
TMEM140	55281	broad.mit.edu	37	7	134849484	134849484	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:134849484C>A	ENST00000275767.2	+	2	514	c.291C>A	c.(289-291)gcC>gcA	p.A97A	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	97						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCCTCTTTGCCCCCCAGCCTC	0.677000													16	54					1.52009e-12	2.29226e-12	0.003163	1	0
MUC5AC	4586	broad.mit.edu	37	11	1151661	1151661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:1151661G>A	ENST00000356191.2	+	1	35	c.35G>A	c.(34-36)tGg>tAg	p.W12*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCCCTGCTCTGGGCCCTGGCT	0.677000													3	6					0	0	0.000248	0	0
TMEM145	284339	broad.mit.edu	37	19	42822023	42822023	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:42822023T>A	ENST00000598766.1	+	12	1135	c.1135T>A	c.(1135-1137)Tat>Aat	p.Y379N	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y355N			Q8NBT3	TM145_HUMAN	transmembrane protein 145	355						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTTTGCTGCCTATACCCTCTG	0.582000													30	65					0	0	0.003271	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771079	99771079	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:99771079G>A	ENST00000370597.3	-	2	395	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14S|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14S	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	14						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCAGGAACGGTAACATCCTG	0.512000													16	89					0	0	0.004007	0	0
MRPL2	51069	broad.mit.edu	37	6	43025848	43025848	+	Missense_Mutation	SNP	T	T	A	rs141171843	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:43025848T>A	ENST00000388752.3	-	2	644	c.220A>T	c.(220-222)Att>Ttt	p.I74F	MRPL2_ENST00000468957.1_Missense_Mutation_p.I74F|MRPL2_ENST00000230413.5_Missense_Mutation_p.I74F|MRPL2_ENST00000487429.1_3'UTR|MRPL2_ENST00000489623.1_Missense_Mutation_p.I74F	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	74					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACTGGTGTAATGGTGTACTTG	0.512000													51	102					0	0	0.003610	0	0
MYO9B	4650	broad.mit.edu	37	19	17311621	17311621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:17311621G>T	ENST00000595618.1	+	26	4698	c.4546G>T	c.(4546-4548)Gag>Tag	p.E1516*	MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1516*|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1516*	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1516	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTACCTGGACGAGTTCCTGCT	0.557000													13	83					1.5842e-08	2.16682e-08	0.001855	1	0
TCEB3	6924	broad.mit.edu	37	1	24078311	24078311	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:24078311T>A	ENST00000418390.2	+	4	1565	c.1294T>A	c.(1294-1296)Tct>Act	p.S432T		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	432					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCCAACCATGTCTTTTGAATC	0.423000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	239					0	0	0.003271	0	0
UBBP4	23666	broad.mit.edu	37	17	21731494	21731494	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:21731494C>A	ENST00000578713.1	+	2	573	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCCGATCAGCAG	0.542000													18	45					1.99824e-07	2.59888e-07	0.004990	1	0
PAQR9	344838	broad.mit.edu	37	3	142681404	142681404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:142681404G>A	ENST00000340634.3	-	1	774	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	259						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGCTCTCGAGCATAATGGGG	0.617000													26	66					0	0	0.007291	0	0
ZNF200	7752	broad.mit.edu	37	16	3274184	3274184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:3274184T>A	ENST00000431561.3	-	5	1508	c.896A>T	c.(895-897)gAg>gTg	p.E299V	ZNF200_ENST00000575948.1_Missense_Mutation_p.E298V|ZNF200_ENST00000396868.3_Missense_Mutation_p.E298V|ZNF200_ENST00000396870.4_Missense_Mutation_p.E298V|ZNF200_ENST00000396871.4_Missense_Mutation_p.E298V|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.E299V	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATGAATTCGCTCATGTTTATT	0.413000													26	82					0	0	0.004656	0	0
LTBP2	4053	broad.mit.edu	37	14	75022254	75022254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:75022254C>G	ENST00000261978.4	-	4	1359	c.973G>C	c.(973-975)Gat>Cat	p.D325H	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.D325H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	325					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGGTGCCATCTCTCTGCTCA	0.632000													29	44					0	0	0.002096	0	0
POLA1	5422	broad.mit.edu	37	X	24745975	24745975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:24745975G>T	ENST00000379068.3	+	15	1651	c.1608G>T	c.(1606-1608)aaG>aaT	p.K536N	POLA1_ENST00000379059.3_Missense_Mutation_p.K530N|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	530					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTAATTAAGGATGTCAGTC	0.408000													11	32					1.61879e-10	2.33473e-10	0.001368	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:34008522C>T	ENST00000374181.3	-	6	1341	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597000													26	36					0	0	0.008361	0	0
GRIN1	2902	broad.mit.edu	37	9	140036576	140036576	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:140036576C>G	ENST00000371561.3	+	2	1467	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G	GRIN1_ENST00000371553.3_Missense_Mutation_p.R124G|GRIN1_ENST00000350902.5_Missense_Mutation_p.R124G|GRIN1_ENST00000371560.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371555.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371546.4_Missense_Mutation_p.R124G|GRIN1_ENST00000315048.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371559.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371550.4_Missense_Mutation_p.R124G|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	124					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGACCACCCGCATGTCCAT	0.652000													37	81					0	0	0.004878	0	0
MYH9	4627	broad.mit.edu	37	22	36689452	36689452	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:36689452A>T	ENST00000216181.5	-	30	4248	c.4018T>A	c.(4018-4020)Tcc>Acc	p.S1340T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1340					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCCGGAAGGAATTCTTCTCG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				28	65					0	0	0.008361	0	0
DNAH3	55567	broad.mit.edu	37	16	21033313	21033313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:21033313C>A	ENST00000261383.3	-	40	5755	c.5756G>T	c.(5755-5757)aGa>aTa	p.R1919I	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1919					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGTACAGTCTCATCATTGA	0.453000													19	38					8.10497e-08	1.07525e-07	0.001523	1	0
OR8H3	390152	broad.mit.edu	37	11	55890472	55890472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:55890472G>T	ENST00000313472.3	+	1	624	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCACCCTGATGGTGTCCCTTA	0.423000													25	119					4.4004e-07	5.62368e-07	0.003330	1	0
GAA	2548	broad.mit.edu	37	17	78086452	78086452	+	Silent	SNP	C	C	T	rs61736896	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:78086452C>T	ENST00000302262.3	+	13	2049	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	GAA_ENST00000390015.3_Silent_p.A610A	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	610			Missing (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGATACGCCGGCCACTGGA	0.687000													3	32					0	0	0.000248	0	0
GRIN1	2902	broad.mit.edu	37	9	140036578	140036578	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:140036578C>G	ENST00000371561.3	+	2	1469	c.372C>G	c.(370-372)cgC>cgG	p.R124R	GRIN1_ENST00000371553.3_Silent_p.R124R|GRIN1_ENST00000350902.5_Silent_p.R124R|GRIN1_ENST00000371560.3_Silent_p.R124R|GRIN1_ENST00000371555.4_Silent_p.R124R|GRIN1_ENST00000371546.4_Silent_p.R124R|GRIN1_ENST00000315048.3_Silent_p.R124R|GRIN1_ENST00000371559.4_Silent_p.R124R|GRIN1_ENST00000371550.4_Silent_p.R124R|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	124					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGACCACCCGCATGTCCATCT	0.647000													35	76					0	0	0.003755	0	0
LILRA4	23547	broad.mit.edu	37	19	54849379	54849379	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:54849379C>G	ENST00000291759.4	-	4	539	c.483G>C	c.(481-483)agG>agC	p.R161S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	161	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCAGGAGAGCCTGTGGTCTC	0.587000													23	25					0	0	0.002780	0	0
ESPNL	339768	broad.mit.edu	37	2	239016463	239016463	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:239016463G>T	ENST00000343063.3	+	4	967	c.704G>T	c.(703-705)cGg>cTg	p.R235L	ESPNL_ENST00000409169.1_Missense_Mutation_p.R235L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	235										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTCACGGCACGGGACAATGAG	0.652000													4	7					1.23904e-05	1.5078e-05	0.000602	1	0
SEMA5B	54437	broad.mit.edu	37	3	122631876	122631876	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:122631876T>G	ENST00000195173.4	-	18	2839	c.2536A>C	c.(2536-2538)Acc>Ccc	p.T846P	SEMA5B_ENST00000357599.3_Missense_Mutation_p.T847P|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T901P			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	847					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCGGGGAGGTGCTCCCGCTG	0.771000													6	13					0	0	0.001168	0	0
VSX2	338917	broad.mit.edu	37	14	74726376	74726376	+	Silent	SNP	G	G	T	rs150792267	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:74726376G>T	ENST00000261980.2	+	4	741	c.651G>T	c.(649-651)gcG>gcT	p.A217A		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GTGTCATGGCGGAGTATGGGC	0.627000													17	30					2.94398e-08	3.98551e-08	0.007413	1	0
OR2D2	120776	broad.mit.edu	37	11	6913062	6913062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:6913062T>A	ENST00000299459.2	-	1	768	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGACCACAGTTACTATGATA	0.438000													18	26					0	0	0.007413	0	0
SLC6A13	6540	broad.mit.edu	37	12	333641	333641	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:333641C>A	ENST00000343164.4	-	10	1151	c.1099G>T	c.(1099-1101)Gtg>Ttg	p.V367L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.V275L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	367					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGCATCACCACAGCCCGC	0.622000													10	55					3.86212e-05	4.61502e-05	0.008291	1	0
MUS81	80198	broad.mit.edu	37	11	65631996	65631996	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:65631996G>A	ENST00000308110.4	+	11	1437	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	MUS81_ENST00000533035.1_Missense_Mutation_p.R288H	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	363	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGTCTGGAGCGCCGGGTATAC	0.592000								Homologous recombination					6	44					0	0	0.001168	0	0
TMEM63B	55362	broad.mit.edu	37	6	44119703	44119703	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:44119703C>G	ENST00000259746.9	+	19	1977	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	TMEM63B_ENST00000323267.6_Silent_p.L598L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	598						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGATCCGGCTCTGCCTGGCGC	0.667000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	0.000602	0	0
HERC1	8925	broad.mit.edu	37	15	63978575	63978575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:63978575C>A	ENST00000443617.2	-	34	6295	c.6208G>T	c.(6208-6210)Ggg>Tgg	p.G2070W	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2070	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGATAGCACCCAGAAGTTACT	0.398000													22	147					7.87624e-14	1.2385e-13	0.002780	1	0
FTMT	94033	broad.mit.edu	37	5	121188072	121188072	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:121188072C>A	ENST00000321339.1	+	1	423	c.414C>A	c.(412-414)ggC>ggA	p.G138G		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	138	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGCGAGGAGGCCGGATCCGCC	0.582000													26	29					4.59853e-10	6.575e-10	0.005443	1	0
OR2L8	391190	broad.mit.edu	37	1	248112950	248112950	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:248112950T>C	ENST00000357191.3	+	1	791	c.791T>C	c.(790-792)cTg>cCg	p.L264P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCAAGATCCCTGCGATCTCCA	0.488000													5	126					0	0	0.000602	0	0
SHROOM3	57619	broad.mit.edu	37	4	77663049	77663049	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:77663049G>T	ENST00000296043.6	+	5	4676	c.3723G>T	c.(3721-3723)agG>agT	p.R1241S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1241					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGAGGTCCAGGTCATCTCCCG	0.652000													6	21					1.06961e-07	1.41053e-07	0.003080	1	0
KIF4B	285643	broad.mit.edu	37	5	154394287	154394287	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:154394287G>C	ENST00000435029.4	+	1	1028	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	290	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCCTACAGAGATTCCAAGTT	0.443000													65	92					0	0	0.003610	0	0
NEMF	9147	broad.mit.edu	37	14	50280705	50280705	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:50280705C>A	ENST00000298310.5	-	18	2194		c.e18+1		NEMF_ENST00000545773.1_Splice_Site|NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000546046.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor							cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAATATATTACCTGTTGGATT	0.318000													13	18					0.000151284	0.000177571	0.001855	1	0
GRIK1	2897	broad.mit.edu	37	21	30934017	30934017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:30934017G>T	ENST00000399914.1	-	14	2760	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	GRIK1_ENST00000399907.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q762K|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q764K|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q762K|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q747K|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q747K|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q764K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	762					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAGTTTCTCTGCGTCACATAC	0.532000													15	76					4.7546e-09	6.6125e-09	0.004007	1	0
GDF10	2662	broad.mit.edu	37	10	48429282	48429282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:48429282G>T	ENST00000224605.2	-	2	869	c.604C>A	c.(604-606)Cag>Aag	p.Q202K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	202					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCTTGGCCTGCCACAGGCCG	0.721000													4	23					0.00024832	0.000289926	0.000248	1	0
DGCR2	9993	broad.mit.edu	37	22	19044598	19044598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:19044598G>A	ENST00000263196.7	-	6	950	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	DGCR2_ENST00000537045.1_Nonsense_Mutation_p.Q194*|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000473832.1_5'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	235	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACTGAAGCTGGGCACAGAAC	0.567000													5	11					0	0	0.000602	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389380	117389380	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:117389380G>A	ENST00000321322.6	-	7	1492	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	DSCAML1_ENST00000527706.1_Silent_p.P227P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGTGACCGTGGGGGGCGGGG	0.662000													10	27					0	0	0.008291	0	0
SNX31	169166	broad.mit.edu	37	8	101661539	101661539	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:101661539C>T	ENST00000311812.2	-	2	254	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	35	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTAGCGCACCCTGCAGAAGAG	0.607000													9	30					0	0	0.004482	0	0
PNCK	139728	broad.mit.edu	37	X	152937657	152937657	+	Splice_Site	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:152937657T>C	ENST00000393831.2	-	4	635		c.e4-2		PNCK_ENST00000475172.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000340888.3_Splice_Site	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACTGATCCTGCAATGGCAA	0.617000													4	41					0	0	0.000248	0	0
COQ5	84274	broad.mit.edu	37	12	120966864	120966864	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:120966864G>A	ENST00000288532.6	-	1	121	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COQ5_ENST00000445328.2_Silent_p.L27L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	27					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACGAAGCCCGAGGAGCTGGC	0.637000													9	71					0	0	0.008291	0	0
RFX6	222546	broad.mit.edu	37	6	117232175	117232175	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:117232175T>A	ENST00000332958.2	+	7	766	c.750T>A	c.(748-750)ctT>ctA	p.L250L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	250					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCAACACCTTGTATACCAAG	0.373000													32	50					0	0	0.004878	0	0
NALCN	259232	broad.mit.edu	37	13	101736089	101736089	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:101736089G>C	ENST00000251127.6	-	31	3637	c.3556C>G	c.(3556-3558)Cag>Gag	p.Q1186E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1186						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGAGGCTGTGCGATCTTC	0.498000													14	41					0	0	0.002450	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660446	113660446	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:113660446C>A	ENST00000393544.2	+	0	494																											GGATCCAGCACCACCTGTAGA	0.572000													5	10					0.00116845	0.00132678	0.001168	1	0
SEMA5A	9037	broad.mit.edu	37	5	9122921	9122921	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:9122921A>T	ENST00000382496.5	-	14	2293	c.1628T>A	c.(1627-1629)tTt>tAt	p.F543Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	543	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCACACACCAAAGTGCCCATC	0.547000													19	95					0	0	0.007413	0	0
COL6A1	1291	broad.mit.edu	37	21	47422543	47422543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:47422543G>T	ENST00000361866.3	+	33	2467	c.2353G>T	c.(2353-2355)Ggc>Tgc	p.G785C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	785	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCCGGCCCGGCCTCTCGCT	0.597000													28	76					6.53348e-20	1.12634e-19	0.003755	1	0
C2CD2L	9854	broad.mit.edu	37	11	118984983	118984983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:118984983C>T	ENST00000336702.3	+	13	2179	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S354L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	606						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACAACCCGTTCGGATATTTCT	0.577000													7	179					0	0	0.001984	0	0
SPAG1	6674	broad.mit.edu	37	8	101243392	101243392	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:101243392A>G	ENST00000388798.2	+	15	2055	c.1864A>G	c.(1864-1866)Aca>Gca	p.T622A	SPAG1_ENST00000251809.3_Missense_Mutation_p.T622A|SPAG1_ENST00000523302.1_3'UTR	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	622					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGATGAAAAAACATTTAAAGC	0.303000													19	47					0	0	0.008871	0	0
ROBO1	6091	broad.mit.edu	37	3	78766455	78766455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:78766455C>A	ENST00000436010.2	-	5	1767	c.770G>T	c.(769-771)aGg>aTg	p.R257M	ROBO1_ENST00000495273.1_Missense_Mutation_p.R257M|ROBO1_ENST00000467549.1_Missense_Mutation_p.R257M|ROBO1_ENST00000464233.1_Missense_Mutation_p.R296M			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	296	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCATCTTTCCTCCATCGTAC	0.443000													58	134					1.34159e-35	2.49476e-35	0.003610	1	0
RC3H2	54542	broad.mit.edu	37	9	125620205	125620205	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:125620205C>A	ENST00000373670.1	-	12	3051	c.2451G>T	c.(2449-2451)gcG>gcT	p.A817A	RC3H2_ENST00000423239.2_Silent_p.A817A|RC3H2_ENST00000357244.2_Silent_p.A817A			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	817						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTTACATCCGCACGAAAGT	0.418000													18	34					8.34094e-07	1.05577e-06	0.008871	1	0
AGBL1	123624	broad.mit.edu	37	15	86807859	86807859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:86807859C>A	ENST00000441037.2	+	10	1414	c.1319C>A	c.(1318-1320)aCt>aAt	p.T440N	AGBL1_ENST00000421325.2_Missense_Mutation_p.T440N|AGBL1_ENST00000389298.3_Missense_Mutation_p.T171N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	440					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTAATTCCACTAGGACTAGA	0.458000													21	101					6.44725e-10	9.17867e-10	0.002299	1	0
RGAG1	57529	broad.mit.edu	37	X	109695043	109695043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:109695043G>T	ENST00000465301.2	+	3	1444	c.1198G>T	c.(1198-1200)Gca>Tca	p.A400S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A400S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	400										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGTGATGTCTGCACCACCAGT	0.512000													126	428					2.77834e-61	5.28524e-61	0.003610	1	0
AKAP1	8165	broad.mit.edu	37	17	55183651	55183651	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:55183651C>G	ENST00000337714.3	+	2	1059	c.826C>G	c.(826-828)Cac>Gac	p.H276D	AKAP1_ENST00000572557.1_Missense_Mutation_p.H276D|AKAP1_ENST00000571629.1_Missense_Mutation_p.H276D|AKAP1_ENST00000314126.3_Missense_Mutation_p.H276D|AKAP1_ENST00000539273.1_Missense_Mutation_p.H276D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	276					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGAGTCGGCTCACACAGAGCT	0.582000													22	97					0	0	0.002780	0	0
CRY2	1408	broad.mit.edu	37	11	45880390	45880390	+	Missense_Mutation	SNP	A	A	T	rs145426016		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:45880390A>T	ENST00000443527.2	+	3	518	c.496A>T	c.(496-498)Acg>Tcg	p.T166S	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Missense_Mutation_p.T84S	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	145	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGAAGTAGTGACGGAGAATTC	0.507000													9	33					0	0	0.001368	0	0
SPG20	23111	broad.mit.edu	37	13	36909680	36909680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:36909680C>A	ENST00000451493.1	-	2	505	c.288G>T	c.(286-288)gaG>gaT	p.E96D	SPG20_ENST00000355182.4_Missense_Mutation_p.E96D|SPG20_ENST00000438666.2_Missense_Mutation_p.E96D|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.E96D	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	96					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAAGACCCTTCTCTAGAATTT	0.448000													23	72					5.35047e-06	6.58367e-06	0.003330	1	0
CDX4	1046	broad.mit.edu	37	X	72667506	72667506	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:72667506G>T	ENST00000373514.2	+	1	417	c.417G>T	c.(415-417)acG>acT	p.T139T		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TTGTCCCGACGGACGCAGGCG	0.657000													15	29					1.3612e-06	1.7099e-06	0.003163	1	0
CNTN1	1272	broad.mit.edu	37	12	41365289	41365289	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:41365289T>A	ENST00000547849.1	+	16	2177	c.1858T>A	c.(1858-1860)Tgt>Agt	p.C620S	CNTN1_ENST00000547702.1_Missense_Mutation_p.C620S|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Missense_Mutation_p.C620S|CNTN1_ENST00000347616.1_Intron	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTCCCCGTCTGTGCAAGCCT	0.418000													6	35					0	0	0.001168	0	0
AMBN	258	broad.mit.edu	37	4	71467241	71467241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:71467241C>T	ENST00000322937.6	+	6	504	c.401C>T	c.(400-402)aCc>aTc	p.T134I	AMBN_ENST00000449493.2_Missense_Mutation_p.T119I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	134					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.T134I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCTGCAACCACCAACCAGGCC	0.547000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	103					0	0	0.008740	0	0
LRP1B	53353	broad.mit.edu	37	2	141641553	141641553	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:141641553C>A	ENST00000389484.3	-	25	4973	c.4002G>T	c.(4000-4002)ctG>ctT	p.L1334L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1334					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGAGTAGCCAGGCCATGCT	0.473000										TSP Lung(27;0.18)			33	105					2.20474e-14	3.50008e-14	0.003755	1	0
DNAH7	56171	broad.mit.edu	37	2	196801370	196801370	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:196801370G>A	ENST00000312428.6	-	20	3325	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1075	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTCATCATTGGACAAAAAAA	0.313000													18	52					0	0	0.008871	0	0
TRPM1	4308	broad.mit.edu	37	15	31362303	31362303	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:31362303G>A	ENST00000542188.1	-	3	574	c.261C>T	c.(259-261)acC>acT	p.T87T	TRPM1_ENST00000559179.1_Silent_p.T48T|TRPM1_ENST00000397795.2_Silent_p.T48T|TRPM1_ENST00000256552.6_Silent_p.T70T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	48					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAGCTCTGGGTGTGCTTGG	0.493000													98	334					0	0	0.003610	0	0
CHST1	8534	broad.mit.edu	37	11	45672284	45672284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:45672284G>T	ENST00000308064.2	-	4	860	c.190C>A	c.(190-192)Ctc>Atc	p.L64I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	64					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGATGAGGATGTGGGTC	0.647000													15	63					0.00316338	0.00356756	0.003163	1	0
FAM199X	139231	broad.mit.edu	37	X	103431193	103431193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:103431193G>T	ENST00000493442.1	+	4	786	c.620G>T	c.(619-621)cGg>cTg	p.R207L	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ATGGGTCTTCGGGAGCAACTT	0.353000													34	58					9.17885e-22	1.59068e-21	0.003271	1	0
C17orf70	80233	broad.mit.edu	37	17	79514713	79514713	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:79514713G>A	ENST00000425898.2	-	1	811	c.342C>T	c.(340-342)gtC>gtT	p.V114V	C17orf70_ENST00000537152.1_Intron|C17orf70_ENST00000327787.8_Intron			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	465					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTCTGCGAAGGACAGACATGA	0.592000													28	71					0	0	0.007291	0	0
DPYS	1807	broad.mit.edu	37	8	105405054	105405054	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:105405054T>A	ENST00000351513.2	-	8	1533	c.1401A>T	c.(1399-1401)ccA>ccT	p.P467P	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	467					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCAGCAAATGGTTTTCGAG	0.488000													34	177					0	0	0.003271	0	0
CACHD1	57685	broad.mit.edu	37	1	65047888	65047888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:65047888A>G	ENST00000371073.2	+	3	311	c.311A>G	c.(310-312)aAt>aGt	p.N104S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.N53S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	104					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GATGTGGTCAATCGGAACAAG	0.443000													15	56					0	0	0.003163	0	0
KLHL6	89857	broad.mit.edu	37	3	183217574	183217574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:183217574C>A	ENST00000341319.3	-	4	986	c.951G>T	c.(949-951)caG>caT	p.Q317H		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	317										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACACCTCAGACTGGAACTCAT	0.572000													10	19					1.58986e-06	1.98958e-06	0.008291	1	0
HYDIN	54768	broad.mit.edu	37	16	70986483	70986483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:70986483G>T	ENST00000393567.2	-	41	6522	c.6372C>A	c.(6370-6372)gaC>gaA	p.D2124E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2124										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCCAAGGTGTCAGTGCTCA	0.498000													11	33					3.86212e-05	4.61502e-05	0.008291	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236734	140236734	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:140236734C>G	ENST00000307360.5	+	1	1101	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	PCDHA10_ENST00000506939.2_Silent_p.V367V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCACCGTCATTGCCCTAA	0.507000													34	61					0	0	0.003271	0	0
RYR2	6262	broad.mit.edu	37	1	237982471	237982471	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:237982471A>G	ENST00000366574.2	+	101	14886	c.14569A>G	c.(14569-14571)Att>Gtt	p.I4857V	RYR2_ENST00000360064.6_Missense_Mutation_p.I4863V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4841V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4857					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTATTGTCATTCTCTTGGC	0.408000													32	100					0	0	0.002836	0	0
CHID1	66005	broad.mit.edu	37	11	883186	883186	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:883186C>T	ENST00000449825.1	-	10	1277	c.921G>A	c.(919-921)gcG>gcA	p.A307A	CHID1_ENST00000323541.7_Silent_p.A337A|CHID1_ENST00000454838.2_Silent_p.A332A|CHID1_ENST00000528581.1_Silent_p.A332A|CHID1_ENST00000323578.8_Silent_p.A307A|CHID1_ENST00000336845.5_Silent_p.A332A|CHID1_ENST00000436108.2_Silent_p.A307A|CHID1_ENST00000429789.2_Silent_p.A276A|CHID1_ENST00000526714.1_5'UTR	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	307					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTGGAGGTCGCGTAGTCCA	0.632000													34	104					0	0	0.002445	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786607	50786607	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:50786607G>T	ENST00000263046.4	+	1	169	c.3G>T	c.(1-3)atG>atT	p.M1I	TFAP2B_ENST00000393655.3_Start_Codon_SNP_p.M1I			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	1					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCACATGAATGCACTCACCTC	0.502000													4	34					5.9392e-07	7.57563e-07	0.001168	1	0
NWD1	284434	broad.mit.edu	37	19	16861059	16861059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:16861059C>A	ENST00000524140.2	+	6	2024	c.1606C>A	c.(1606-1608)Ctg>Atg	p.L536M	NWD1_ENST00000379808.3_Missense_Mutation_p.L536M|NWD1_ENST00000339803.6_Missense_Mutation_p.L401M|NWD1_ENST00000552788.1_Missense_Mutation_p.L536M|NWD1_ENST00000549814.1_Missense_Mutation_p.L536M|NWD1_ENST00000523826.1_Missense_Mutation_p.L330M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	536	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGGGCGGCTGAGGCTGGC	0.647000													11	45					6.40141e-05	7.59451e-05	0.000978	1	0
FKBP6	8468	broad.mit.edu	37	7	72744232	72744232	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:72744232C>A	ENST00000252037.4	+	4	414	c.345C>A	c.(343-345)aaC>aaA	p.N115K	FKBP6_ENST00000413573.2_Missense_Mutation_p.N85K|FKBP6_ENST00000431982.2_Missense_Mutation_p.N110K	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	115	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCAAACCGAACTACGCCTATG	0.537000													52	34					1.81118e-26	3.27596e-26	0.003610	1	0
DEPTOR	64798	broad.mit.edu	37	8	121021282	121021282	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:121021282G>T	ENST00000286234.5	+	8	1141	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	DEPTOR_ENST00000523492.1_Silent_p.A236A|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	337	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGGTGACGCGGTTGGCTGGG	0.542000													7	45					0.000274275	0.00031743	0.004482	1	0
PTPRG	5793	broad.mit.edu	37	3	61547990	61547990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:61547990G>T	ENST00000474889.1	+	1	406	c.29G>T	c.(28-30)tGg>tTg	p.W10L	PTPRG_ENST00000295874.10_Missense_Mutation_p.W10L|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	10					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTTGGTGGATTTTGTTC	0.572000													33	68					6.90743e-12	1.02989e-11	0.003755	1	0
OR4D11	219986	broad.mit.edu	37	11	59271633	59271633	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:59271633T>A	ENST00000313253.1	+	1	585	c.585T>A	c.(583-585)ctT>ctA	p.L195L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTTTGCTCTTGAGTTCTTGA	0.488000													59	139					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945713	16945713	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:16945713C>A	ENST00000412962.1	-	0	1806																											CTGAGTGTGCCACTGCAGGTG	0.602000													21	133					6.21321e-17	1.03606e-16	0.002780	1	0
VSIG4	11326	broad.mit.edu	37	X	65242194	65242194	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:65242194C>T	ENST00000374737.4	-	8	1219	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.A277T	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	371					complement activation, alternative pathway	integral to membrane	protein binding	p.A371T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGATCTGGGCGATGATCTGG	0.517000													25	45					0	0	0.003954	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283519	126283519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:126283519G>T	ENST00000526727.1	+	9	1265	c.891G>T	c.(889-891)gaG>gaT	p.E297D	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E292D|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E297D|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E296D|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E293D|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E303D|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E286D|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E293D			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	297					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ACTACTATGAGCAGATCACGC	0.597000													19	68					4.96729e-08	6.62973e-08	0.008871	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361787	105361787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:105361787T>A	ENST00000297581.2	+	2	1056	c.1007T>A	c.(1006-1008)gTt>gAt	p.V336D	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	336					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGGTTTGAGGTTCACTTGAAA	0.488000													36	149					0	0	0.005524	0	0
FAM154A	158297	broad.mit.edu	37	9	18950780	18950780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:18950780G>A	ENST00000380534.4	-	2	473	c.194C>T	c.(193-195)cCa>cTa	p.P65L	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Missense_Mutation_p.P65L|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	65										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GCCTTCCATTGGTATAGGCCC	0.448000													17	107					0	0	0.008871	0	0
ZNF473	25888	broad.mit.edu	37	19	50545052	50545052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:50545052G>A	ENST00000595661.1	+	5	697	c.202G>A	c.(202-204)Gga>Aga	p.G68R	ZNF473_ENST00000445728.3_Missense_Mutation_p.G56R|ZNF473_ENST00000601364.1_Missense_Mutation_p.G68R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G68R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G68R			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	68	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTGGCAGGAGGAAGCCCAGA	0.592000													17	108					0	0	0.006122	0	0
PER2	8864	broad.mit.edu	37	2	239161729	239161729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:239161729G>T	ENST00000254657.3	-	19	3214	c.2935C>A	c.(2935-2937)Ccg>Acg	p.P979T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	979	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAAGAGCGGTGGGGAGGCC	0.682000													23	43					1.96895e-08	2.67648e-08	0.002780	1	0
F7	2155	broad.mit.edu	37	13	113768231	113768231	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:113768231C>T	ENST00000375581.3	+	5	422	c.387C>T	c.(385-387)atC>atT	p.I129I	F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Silent_p.I60I|F7_ENST00000346342.3_Silent_p.I107I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	129	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	p.I129I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTCCTATATCTGCTTCTGCC	0.602000													5	89					0	0	0.001168	0	0
SCN3A	6328	broad.mit.edu	37	2	166019212	166019212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:166019212C>T	ENST00000360093.3	-	8	1312	c.821G>A	c.(820-822)aGg>aAg	p.R274K	SCN3A_ENST00000283254.7_Missense_Mutation_p.R274K|SCN3A_ENST00000409101.3_Missense_Mutation_p.R274K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	274						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACATTTATTCCTCAGATTGCC	0.443000													27	72					0	0	0.005443	0	0
KPNA4	3840	broad.mit.edu	37	3	160239566	160239566	+	Splice_Site	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:160239566C>T	ENST00000334256.4	-	11	1209		c.e11+1			NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACAAACTTACCTGAACTTTA	0.348000													7	78					0	0	0.004482	0	0
GBX1	2636	broad.mit.edu	37	7	150846032	150846032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:150846032C>G	ENST00000297537.4	-	2	735	c.736G>C	c.(736-738)Gag>Cag	p.E246Q		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	246						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCCCCTCCTCAGCTCCA	0.617000													31	158					0	0	0.002096	0	0
ANXA5	308	broad.mit.edu	37	4	122589682	122589682	+	Splice_Site	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:122589682C>T	ENST00000296511.5	-	13	1189	c.903_splice	c.e13-1	p.G302_splice	ANXA5_ENST00000501272.2_Splice_Site_p.G242_splice|ANXA5_ENST00000515017.1_Splice_Site_p.G202_splice	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	302					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATGTATCTCCCTGAAACCAA	0.423000													5	56					0	0	0.003080	0	0
PIGS	94005	broad.mit.edu	37	17	26890891	26890891	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:26890891G>T	ENST00000308360.7	-	4	696	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PIGS_ENST00000395346.2_Silent_p.A99A|PIGS_ENST00000543734.1_Silent_p.A46A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	107					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGATAGGCCTTCTGGA	0.507000													38	108					8.01111e-26	1.44113e-25	0.002522	1	0
MMP7	4316	broad.mit.edu	37	11	102395788	102395788	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:102395788C>A	ENST00000260227.4	-	4	544	c.492G>T	c.(490-492)ggG>ggT	p.G164G		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	164					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GGTAGGAGTCCCCATGAGCTG	0.443000													14	28					6.31663e-08	8.3968e-08	0.003163	1	0
CSMD2	114784	broad.mit.edu	37	1	34083126	34083126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:34083126G>T	ENST00000373381.4	-	38	6095	c.5919C>A	c.(5917-5919)ttC>ttA	p.F1973L	CSMD2_ENST00000373388.2_Missense_Mutation_p.F72L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F846L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F72L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1933	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCACACTGGAAAGACACCA	0.587000													8	37					5.18039e-06	6.39817e-06	0.003080	1	0
HM13	81502	broad.mit.edu	37	20	30155996	30155996	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:30155996C>T	ENST00000335574.5	+	12	1274	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	HM13_ENST00000340852.5_Intron|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000398174.3_Missense_Mutation_p.R384C|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	0					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCTGGCCCTCGCCGCCGGCG	0.692000													6	35					0	0	0.001984	0	0
ITIH5	80760	broad.mit.edu	37	10	7618933	7618933	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:7618933G>A	ENST00000256861.6	-	10	1539	c.1461C>T	c.(1459-1461)cgC>cgT	p.R487R	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.R487R|ITIH5_ENST00000298441.6_Silent_p.R273R|ITIH5_ENST00000446830.2_Silent_p.R269R|ITIH5_ENST00000397145.2_Silent_p.R487R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GATAATCGATGCGGATGTCAG	0.592000													8	45					0	0	0.003080	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000338519.3_Silent_p.F431F|PKD2L1_ENST00000353274.3_Silent_p.F506F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGAAAGTGCTAAAGTTTTCCA	0.542000													12	18					0	0	0.000978	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801933	24801933	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:24801933A>T	ENST00000395799.3	+	6	2099	c.1970A>T	c.(1969-1971)aAt>aTt	p.N657I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N657I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	657	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTCAGACAAATGAGCAAAGC	0.468000													21	29					0	0	0.002299	0	0
SYN1	6853	broad.mit.edu	37	X	47466576	47466576	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:47466576T>A	ENST00000295987.7	-	2	523	c.399A>T	c.(397-399)aaA>aaT	p.K133N	SYN1_ENST00000340666.4_Missense_Mutation_p.K133N	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	133	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CATGGATCTTTTTCCCTTTGA	0.428000													16	28					0	0	0.004990	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525336	154525336	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:154525336G>A	ENST00000409663.3	+	25	3221	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E974K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1058K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1057						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GAATAAAGAAGAAAACACACT	0.378000													11	57					0	0	0.008291	0	0
LEF1	51176	broad.mit.edu	37	4	109084820	109084820	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:109084820G>T	ENST00000379951.2	-	3	1506	c.318C>A	c.(316-318)ccC>ccA	p.P106P	LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000510624.1_Silent_p.P38P|LEF1_ENST00000265165.1_Silent_p.P106P|LEF1_ENST00000512172.1_Silent_p.P38P	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	106	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCGAGTAGGAGGGTCCCTTGT	0.423000													10	38					2.74318e-10	3.94779e-10	0.006214	1	0
PXDNL	137902	broad.mit.edu	37	8	52387588	52387588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:52387588G>T	ENST00000356297.4	-	7	738	c.638C>A	c.(637-639)cCc>cAc	p.P213H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P213H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	213	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGTCTCCTGGGATATTCGCA	0.498000													6	13					0.00116845	0.00132678	0.001168	1	0
CACNA1B	774	broad.mit.edu	37	9	140878624	140878624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:140878624C>A	ENST00000371372.1	+	13	1836	c.1691C>A	c.(1690-1692)gCg>gAg	p.A564E	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A564E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A564E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A565E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A565E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	564					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGTCTGGGCGGCCATCAAG	0.602000													5	5					0.00116845	0.00132678	0.001168	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178557085	178557085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:178557085C>T	ENST00000251582.7	-	16	2406	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	769	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGCCTGTCTCCAGGTTCTTG	0.567000													12	29					0	0	0.001855	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23695808	23695808	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:23695808C>G	ENST00000335648.3	+	1	80	c.18C>G	c.(16-18)gtC>gtG	p.V6V	C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Silent_p.V6V|C1orf213_ENST00000454117.1_Silent_p.V6V|C1orf213_ENST00000518821.1_Silent_p.V6V|ZNF436_ENST00000314011.4_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGTCCCTGTCCGGTTGAAGG	0.612000													5	53					0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101890140	101890140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:101890140G>A	ENST00000251127.6	-	12	1481	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L	NALCN_ENST00000376196.3_Missense_Mutation_p.P467L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	467						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAGATCTGGGTATACATG	0.323000													16	228					0	0	0.004990	0	0
WDR45	11152	broad.mit.edu	37	X	48933220	48933220	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:48933220G>C	ENST00000356463.3	-	9	1150	c.712C>G	c.(712-714)Cct>Gct	p.P238A	WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.P237A|WDR45_ENST00000376358.3_Missense_Mutation_p.P135A|WDR45_ENST00000376368.2_Missense_Mutation_p.P238A|WDR45_ENST00000553851.1_Missense_Mutation_p.P135A|WDR45_ENST00000322995.8_Missense_Mutation_p.P248A|WDR45_ENST00000396681.4_Missense_Mutation_p.P237A|WDR45_ENST00000485908.1_Missense_Mutation_p.P202A|WDR45_ENST00000473974.1_Missense_Mutation_p.P237A	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	237					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGGTGGCAGGGTCAGTGCCT	0.557000													17	40					0	0	0.008871	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253683	123253683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:123253683T>A	ENST00000349780.4	-	13	1563	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.K462*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	462					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGAAGACTCTTGTAACGATTT	0.343000													12	38					0	0	0.000978	0	0
BCORL1	63035	broad.mit.edu	37	X	129148822	129148822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:129148822G>T	ENST00000540052.1	+	3	2118	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	BCORL1_ENST00000218147.7_Nonsense_Mutation_p.E692*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E692*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E692*	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.E692K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCTTTCCCGAGATCGTGAG	0.602000													34	68					4.11147e-13	6.2859e-13	0.003755	1	0
AMER1	139285	broad.mit.edu	37	X	63410715	63410715	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:63410715C>A	ENST00000330258.3	-	2	2724	c.2452G>T	c.(2452-2454)Ggg>Tgg	p.G818W	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTGCCTTCCCCATCCCGTTCC	0.507000													12	38					9.05144e-12	1.34351e-11	0.001855	1	0
RASA3	22821	broad.mit.edu	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:114780772C>T	ENST00000334062.7	-	14	1439	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_ENST00000389544.4_Missense_Mutation_p.A408T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647000													10	81					0	0	0.008291	0	0
ERCC6	2074	broad.mit.edu	37	10	50732561	50732561	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:50732561T>A	ENST00000355832.5	-	5	993	c.915A>T	c.(913-915)ccA>ccT	p.P305P	ERCC6-PGBD3_ENST00000447839.2_Silent_p.P305P|ERCC6-PGBD3_ENST00000515869.1_Silent_p.P305P|PGBD3_ENST00000603152.1_Silent_p.P305P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	305					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCACTGGGGCTGGAGGCGTGA	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)					33	103					0	0	0.002836	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970102	101970102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:101970102C>A	ENST00000543253.1	+	5	1224	c.305C>A	c.(304-306)gCc>gAc	p.A102D	GPRASP2_ENST00000535209.1_Missense_Mutation_p.A102D|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A102D	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAACCGATGCCAGGGCAGTA	0.577000													61	166					8.52622e-23	1.50516e-22	0.003610	1	0
BRINP3	339479	broad.mit.edu	37	1	190067356	190067356	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:190067356G>A	ENST00000367462.3	-	8	2324	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S596L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		698						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAAAAGTGCTGAATCCTGGGA	0.468000													6	100					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559770	44559770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:44559770C>T	ENST00000332567.4	-	1	2218	c.1866G>A	c.(1864-1866)atG>atA	p.M622I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	622	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TATTCGTTGTCATTACTCTCA	0.502000													52	71					0	0	0.003610	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444406	76444406	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:76444406C>G	ENST00000261182.8	-	12	1450	c.964G>C	c.(964-966)Gca>Cca	p.A322P	NAP1L1_ENST00000547993.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A281P|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A259P|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A322P|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A322P|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A254P|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A280P|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A333P|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A322P	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	322					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCGAAGTCTGCAGCAAGGATA	0.348000													17	24					0	0	0.004007	0	0
GSTA1	2938	broad.mit.edu	37	6	52657738	52657738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:52657738G>T	ENST00000334575.5	-	6	617	c.462C>A	c.(460-462)agC>agA	p.S154R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	154	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TGTCAGCCCGGCTCAGCTTGT	0.517000													27	128					1.75199e-13	2.70985e-13	0.007291	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132041	91132041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:91132041G>A	ENST00000373094.1	+	2	1647	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	PCDH11X_ENST00000373097.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V268M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V268M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	268	Cadherin 3.				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						AGGCACTTCAGTGACACAGCT	0.428000													28	55					0	0	0.003610	0	0
LCP1	3936	broad.mit.edu	37	13	46716508	46716508	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:46716508G>A	ENST00000398576.2	-	16	1809	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	LCP1_ENST00000323076.2_Missense_Mutation_p.S474F|LCP1_ENST00000435666.2_Missense_Mutation_p.S43F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	474	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GCCAACCAGGGAGAACTTCGC	0.438000			T	BCL6	NHL								21	47					0	0	0.002299	0	0
WSCD2	9671	broad.mit.edu	37	12	108634140	108634140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:108634140C>A	ENST00000332082.4	+	9	1982	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	WSCD2_ENST00000261400.3_Missense_Mutation_p.D388E|WSCD2_ENST00000547525.1_Missense_Mutation_p.D388E|WSCD2_ENST00000549903.1_Missense_Mutation_p.D388E			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	388						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GTGAGCGGGACCACTGGCGCA	0.622000													11	144					7.93312e-07	1.00608e-06	0.002450	1	0
CLOCK	9575	broad.mit.edu	37	4	56342213	56342213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:56342213C>A	ENST00000309964.4	-	6	515	c.265G>T	c.(265-267)Gca>Tca	p.A89S	CLOCK_ENST00000513440.1_Missense_Mutation_p.A89S|CLOCK_ENST00000381322.1_Missense_Mutation_p.A89S	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	89					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCTGACTGTGCAGTGATTTCT	0.378000													11	33					2.27111e-07	2.94222e-07	0.001368	1	0
SIRPB1	10326	broad.mit.edu	37	20	1559157	1559157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:1559157G>T	ENST00000381605.4	-	2	324	c.260C>A	c.(259-261)cCa>cAa	p.P87Q	SIRPB1_ENST00000381603.3_Missense_Mutation_p.P87Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P86Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P87Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	87	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTTACCCGTGGGAAGTGGCC	0.507000													74	74					7.07328e-35	1.30796e-34	0.003610	1	0
ANK2	287	broad.mit.edu	37	4	114279870	114279870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:114279870A>T	ENST00000357077.4	+	38	10149	c.10096A>T	c.(10096-10098)Acc>Tcc	p.T3366S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3333S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3333					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)		AGATCTAGACACCTCTGTCCA	0.463000													35	62					0	0	0.003271	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423683	107423683	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:107423683G>T	ENST00000340010.5	-	9	1270	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SLC26A3_ENST00000422236.2_Silent_p.S327S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	362					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTATTTGAGGGAATAGACGC	0.423000													29	35					1.32181e-22	2.32105e-22	0.007291	1	0
C2orf78	388960	broad.mit.edu	37	2	74041004	74041004	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:74041004T>A	ENST00000409561.1	+	2	619	c.498T>A	c.(496-498)taT>taA	p.Y166*		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	166										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCCAGTATTATAAAACTTCAG	0.443000													13	22					0	0	0.001855	0	0
ZEB1	6935	broad.mit.edu	37	10	31816173	31816173	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:31816173A>G	ENST00000446923.2	+	9	3699	c.3308A>G	c.(3307-3309)gAa>gGa	p.E1103G	ZEB1_ENST00000560721.2_Missense_Mutation_p.E1099G|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1120G|ZEB1_ENST00000320985.10_Missense_Mutation_p.E1119G|ZEB1_ENST00000542815.3_Missense_Mutation_p.E1052G	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1119	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTCTGAAGAAAAGACAAAT	0.368000													3	9					0	0	0.000248	0	0
ITGA4	3676	broad.mit.edu	37	2	182358123	182358123	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:182358123G>A	ENST00000397033.2	+	11	1655	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	409					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGTGCAGATGGGATCTCGTC	0.373000													18	34					0	0	0.007413	0	0
EZH1	2145	broad.mit.edu	37	17	40858171	40858171	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:40858171T>C	ENST00000428826.2	-	16	1814	c.1693A>G	c.(1693-1695)Acc>Gcc	p.T565A	EZH1_ENST00000590078.1_Missense_Mutation_p.T495A|EZH1_ENST00000435174.1_Missense_Mutation_p.T426A|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.T556A|EZH1_ENST00000585893.1_Missense_Mutation_p.T525A|EZH1_ENST00000592743.1_Missense_Mutation_p.T565A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	565	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGCACTGGGTCTTACAGCGA	0.517000													6	101					0	0	0.001984	0	0
SLC5A1	6523	broad.mit.edu	37	22	32482216	32482216	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:32482216C>T	ENST00000266088.4	+	10	1281	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A217V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	344					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GAAAAAATTGCCTGTGTCGTC	0.448000													28	105					0	0	0.004289	0	0
CXorf22	170063	broad.mit.edu	37	X	35969947	35969947	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:35969947A>T	ENST00000297866.5	+	6	979	c.913A>T	c.(913-915)Att>Ttt	p.I305F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	305										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGAACAGATATTGCTTTAAA	0.284000													12	52					0	0	0.001368	0	0
ZNF264	9422	broad.mit.edu	37	19	57716786	57716786	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:57716786A>T	ENST00000263095.6	+	3	596	c.182A>T	c.(181-183)gAg>gTg	p.E61V	ZNF264_ENST00000536056.1_Missense_Mutation_p.E61V	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		CCCAAAGCTGAGCTGATCTGC	0.512000													7	21					0	0	0.001984	0	0
LTBP4	8425	broad.mit.edu	37	19	41105444	41105444	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:41105444T>A	ENST00000308370.7	+	3	323	c.323T>A	c.(322-324)cTc>cAc	p.L108H	LTBP4_ENST00000204005.9_Missense_Mutation_p.L71H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	108					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGTCCCTCAACTGGCAG	0.637000													18	95					0	0	0.001523	0	0
KPRP	448834	broad.mit.edu	37	1	152733235	152733235	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:152733235T>C	ENST00000368773.1	+	2	1229	c.1171T>C	c.(1171-1173)Tgt>Cgt	p.C391R	KPRP_ENST00000606109.1_Missense_Mutation_p.C391R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	391	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGACCAGTGTCCAGAGTC	0.642000													20	56					0	0	0.001523	0	0
CLEC16A	23274	broad.mit.edu	37	16	11118744	11118744	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:11118744G>C	ENST00000409790.1	+	13	1733	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCTGTTCGTGCTCTGCCTCC	0.547000													9	10					0	0	0.006214	0	0
PDIA2	64714	broad.mit.edu	37	16	335128	335128	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:335128C>G	ENST00000219406.6	+	5	741	c.723C>G	c.(721-723)ggC>ggG	p.G241G	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.G238G	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	241					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGGAGCTTGGCCTGGACCTGG	0.662000													9	27					0	0	0.004482	0	0
GSTA5	221357	broad.mit.edu	37	6	52701069	52701069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:52701069G>T	ENST00000370989.1	-	4	395	c.237C>A	c.(235-237)taC>taA	p.Y79*	GSTA5_ENST00000284562.2_Nonsense_Mutation_p.Y79*|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	79	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATAAAGGTTGTATTTGCTGG	0.433000													47	116					2.77807e-22	4.85246e-22	0.003214	1	0
ESPNL	339768	broad.mit.edu	37	2	239016588	239016588	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:239016588G>C	ENST00000343063.3	+	4	1092	c.829G>C	c.(829-831)Gac>Cac	p.D277H	ESPNL_ENST00000409169.1_Missense_Mutation_p.D277H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	277										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCCCTCCACGACGCAGCAGA	0.637000													11	27					0	0	0.001368	0	0
IL10RB	3588	broad.mit.edu	37	21	34660564	34660564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:34660564G>C	ENST00000290200.2	+	6	910	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GCACCTGAAAGAGGTAGGTAG	0.493000													15	57					0	0	0.004007	0	0
GP2	2813	broad.mit.edu	37	16	20335250	20335250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:20335250C>A	ENST00000302555.5	-	3	572	c.423G>T	c.(421-423)tgG>tgT	p.W141C	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.W141C			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	141						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGTTGCCACTCCAATGGGCAC	0.592000													24	66					5.35356e-11	7.78913e-11	0.002780	1	0
GORAB	92344	broad.mit.edu	37	1	170521193	170521193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:170521193G>T	ENST00000367763.3	+	5	795	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	259	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GTACATTGCAGCAAAGCTAGA	0.418000													41	99					1.32136e-16	2.18139e-16	0.008740	1	0
TTC21B	79809	broad.mit.edu	37	2	166797562	166797562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:166797562C>A	ENST00000243344.7	-	6	822	c.685G>T	c.(685-687)Gac>Tac	p.D229Y	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	229						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACTGTCTGGTCCCAATCCTGC	0.388000													16	50					9.16793e-09	1.26178e-08	0.004990	1	0
MKRN3	7681	broad.mit.edu	37	15	23811369	23811369	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:23811369C>A	ENST00000314520.3	+	1	916	c.440C>A	c.(439-441)gCg>gAg	p.A147E	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A147V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCACGGCTGCGCACATCGAG	0.632000													7	29					5.18039e-06	6.39817e-06	0.003080	1	0
IDS	3423	broad.mit.edu	37	X	148564645	148564645	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:148564645C>T	ENST00000340855.6	-	9	1494	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	IDS_ENST00000541269.1_Missense_Mutation_p.V218I|IDS_ENST00000537071.1_Missense_Mutation_p.V32I|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	429						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACAGCTCAACGTGAAATGAA	0.527000													52	90					0	0	0.003610	0	0
SLC6A14	11254	broad.mit.edu	37	X	115572134	115572134	+	Splice_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:115572134G>T	ENST00000371900.4	+	3	303	c.214_splice	c.e3-1	p.G72_splice		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	72					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CCTTTTTTAGGCGCCTTCTTG	0.403000													90	316					1.15966e-41	2.17477e-41	0.003610	1	0
TFIP11	24144	broad.mit.edu	37	22	26895444	26895444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:26895444C>T	ENST00000407690.1	-	9	1238	c.955G>A	c.(955-957)Gag>Aag	p.E319K	TFIP11_ENST00000407431.1_Missense_Mutation_p.E319K|TFIP11_ENST00000407148.1_Missense_Mutation_p.E319K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E319K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	319					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCTCCAGCTCGGGCAGCGCG	0.612000													16	90					0	0	0.004007	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849423	171849423	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:171849423G>A	ENST00000311601.5	-	2	323	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SH3PXD2B_ENST00000519643.1_Silent_p.L51L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	51	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTACCTGGAGGTCAAAAA	0.488000													7	18					0	0	0.001984	0	0
FOXO4	4303	broad.mit.edu	37	X	70321242	70321242	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:70321242C>A	ENST00000374259.3	+	2	1494	c.1162C>A	c.(1162-1164)Ccc>Acc	p.P388T	FOXO4_ENST00000341558.3_Missense_Mutation_p.P333T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	388					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCAGGTAGATCCCATTCTGTC	0.637000													21	67					5.26018e-13	8.02359e-13	0.001882	1	0
GPI	2821	broad.mit.edu	37	19	34859521	34859521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:34859521C>T	ENST00000415930.3	+	5	603	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	GPI_ENST00000586425.1_Missense_Mutation_p.R106W|GPI_ENST00000356487.5_Missense_Mutation_p.R106W	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	106					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCTGCGGAACCGGTCAAACAC	0.582000													5	55					0	0	0.001168	0	0
INPP1	3628	broad.mit.edu	37	2	191233942	191233942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:191233942G>T	ENST00000392329.2	+	6	1280	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	INPP1_ENST00000322522.4_Missense_Mutation_p.G194W|INPP1_ENST00000541441.1_Missense_Mutation_p.G194W	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	194					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CATACAGACAGGGGTTCCCCT	0.408000													38	84					3.43241e-23	6.07556e-23	0.002222	1	0
PRPF8	10594	broad.mit.edu	37	17	1554421	1554421	+	Silent	SNP	C	C	A	rs147050234		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:1554421C>A	ENST00000572621.1	-	41	7099	c.6834G>T	c.(6832-6834)tcG>tcT	p.S2278S	PRPF8_ENST00000304992.6_Silent_p.S2278S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2278						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTAGTTCCACGAGGACTGGG	0.577000													15	20					1.3612e-06	1.7099e-06	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179576905	179576905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:179576905C>A	ENST00000589042.1	-	96	27876	c.27652G>T	c.(27652-27654)Gtt>Ttt	p.V9218F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8901F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7974F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8901	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCCAACAGACACCTTA	0.458000													24	78					5.35047e-06	6.58367e-06	0.003330	1	0
TTF1	7270	broad.mit.edu	37	9	135267523	135267523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:135267523C>A	ENST00000334270.2	-	6	1966	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	643	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCATCTCACCAATCGTCTTC	0.488000													15	23					1.49906e-05	1.81754e-05	0.002450	1	0
EPHA6	285220	broad.mit.edu	37	3	96706376	96706376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:96706376C>T	ENST00000389672.5	+	3	691	c.653C>T	c.(652-654)aCa>aTa	p.T218I	EPHA6_ENST00000542517.1_Missense_Mutation_p.T124I|EPHA6_ENST00000470610.2_Missense_Mutation_p.T218I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	123						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAAAGAAACATTTAATCTG	0.393000													45	106					0	0	0.008740	0	0
AMBRA1	55626	broad.mit.edu	37	11	46430094	46430094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:46430094C>A	ENST00000458649.2	-	17	3790	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1064D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1034D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1005D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1064D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1124					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTCCCTGGCTCCGGCACCT	0.637000													19	24					1.55795e-14	2.47923e-14	0.001882	1	0
ARHGAP4	393	broad.mit.edu	37	X	153186130	153186130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:153186130C>T	ENST00000370028.3	-	5	688	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G188R|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G211R|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G190R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	211					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGGGCCCTGCCTCAGTG	0.692000													27	76					0	0	0.005443	0	0
CNTN4	152330	broad.mit.edu	37	3	2787225	2787225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:2787225G>T	ENST00000397461.1	+	5	586	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	CNTN4_ENST00000418658.1_Missense_Mutation_p.D68Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.D68Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	68	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAATGGAACAGATGTTGACAC	0.348000													13	66					1.49906e-05	1.81754e-05	0.002450	1	0
CSMD3	114788	broad.mit.edu	37	8	113418829	113418829	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:113418829A>G	ENST00000297405.5	-	35	5977	c.5733T>C	c.(5731-5733)caT>caC	p.H1911H	CSMD3_ENST00000352409.3_Silent_p.H1841H|CSMD3_ENST00000343508.3_Silent_p.H1871H|CSMD3_ENST00000455883.2_Silent_p.H1807H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1911	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTATGGATCCATGGAGAATAT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	45					0	0	0.001168	0	0
RBM44	375316	broad.mit.edu	37	2	238725983	238725983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:238725983G>A	ENST00000316997.4	+	3	556	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RBM44_ENST00000409864.1_Missense_Mutation_p.E142K|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	141							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GCAGAAAAAAGAGGAGGTTTT	0.308000													8	9					0	0	0.003080	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852534	31852534	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:31852534G>T	ENST00000390689.2	-	1	129	c.103C>A	c.(103-105)Cgg>Agg	p.R35R		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	35	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAGAACCCCGTCTGCAGAAG	0.587000													78	240					4.00405e-42	7.53034e-42	0.003610	1	0
SSPO	23145	broad.mit.edu	37	7	149515769	149515769	+	RNA	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:149515769C>T	ENST00000378016.2	+	0	11670							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCTGGTCCCCCTGCTCCA	0.682000													14	39					0	0	0.003163	0	0
FOXI1	2299	broad.mit.edu	37	5	169535566	169535566	+	Missense_Mutation	SNP	G	G	T	rs150705492	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:169535566G>T	ENST00000449804.2	+	2	848	c.803G>T	c.(802-804)aGt>aTt	p.S268I	FOXI1_ENST00000306268.6_Missense_Mutation_p.S363I	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	363					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTACAACAGTGTCAACACC	0.572000									Pendred syndrome				31	36					2.46105e-21	4.25383e-21	0.002096	1	0
NGF	4803	broad.mit.edu	37	1	115829133	115829133	+	Missense_Mutation	SNP	C	C	A	rs150136942	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:115829133C>A	ENST00000369512.2	-	3	452	c.284G>T	c.(283-285)cGt>cTt	p.R95L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	95					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.R95H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGCAGCTTCACGGGGAGGCTG	0.602000													17	37					1.02788e-11	1.51888e-11	0.004990	1	0
POLD2	5425	broad.mit.edu	37	7	44156578	44156578	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:44156578G>A	ENST00000406581.2	-	7	1267	c.618C>T	c.(616-618)ggC>ggT	p.G206G	POLD2_ENST00000223361.3_Silent_p.G206G|POLD2_ENST00000452185.1_Silent_p.G206G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	206					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CGCCTCCACCGCCACCCAGGC	0.692000													20	20					0	0	0.001523	0	0
BAI2	576	broad.mit.edu	37	1	32196416	32196416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:32196416C>A	ENST00000373658.3	-	29	4706	c.4365G>T	c.(4363-4365)aaG>aaT	p.K1455N	BAI2_ENST00000527361.1_Missense_Mutation_p.K1422N|BAI2_ENST00000398538.1_Missense_Mutation_p.K1443N|BAI2_ENST00000257070.4_Missense_Mutation_p.K1422N|BAI2_ENST00000373655.2_Missense_Mutation_p.K1455N|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.K1388N|BAI2_ENST00000398542.1_Missense_Mutation_p.K1355N|BAI2_ENST00000398556.3_Missense_Mutation_p.K1370N|BAI2_ENST00000440175.2_Missense_Mutation_p.K1064N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1455					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGAGCCCATCTTCATGGTAG	0.672000													29	66					3.69857e-22	6.44329e-22	0.008361	1	0
DNAH8	1769	broad.mit.edu	37	6	38783335	38783335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:38783335G>T	ENST00000359357.3	+	24	3028	c.2774G>T	c.(2773-2775)gGg>gTg	p.G925V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G1142V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G925V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTCACTGGGGGCAACAGCAA	0.488000													16	24					4.7546e-09	6.6125e-09	0.004007	1	0
PRDM9	56979	broad.mit.edu	37	5	23522775	23522775	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:23522775C>A	ENST00000296682.3	+	8	845	c.663C>A	c.(661-663)ccC>ccA	p.P221P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	221					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCATGGGCCCCCTACATTTG	0.532000										HNSCC(3;0.000094)			16	46					2.23348e-06	2.77926e-06	0.004007	1	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													5	27					0	0	0.003080	0	0
KLHL4	56062	broad.mit.edu	37	X	86872999	86872999	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:86872999G>T	ENST00000373119.4	+	4	937	c.792G>T	c.(790-792)ctG>ctT	p.L264L	KLHL4_ENST00000373114.4_Silent_p.L264L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	264						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTCTGCAGCTGACTCAGGTCA	0.418000													16	52					0.00074312	0.000849647	0.006122	1	0
FRAS1	80144	broad.mit.edu	37	4	79455609	79455609	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:79455609G>A	ENST00000264895.6	+	71	11372	c.10932G>A	c.(10930-10932)ctG>ctA	p.L3644L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3639					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTAGATTCCTGATACCCATTG	0.468000													9	132					0	0	0.000978	0	0
EIF2S3	1968	broad.mit.edu	37	X	24075597	24075597	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:24075597C>T	ENST00000253039.4	+	3	446	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	65						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TTCTGGAGTTCATACTGTCAG	0.348000													9	41					0	0	0.004482	0	0
HUWE1	10075	broad.mit.edu	37	X	53577916	53577916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:53577916G>C	ENST00000342160.3	-	64	9788	c.9331C>G	c.(9331-9333)Cgt>Ggt	p.R3111G	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3111G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3111					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAAACAGACGCTCATGCATG	0.582000													6	60					0	0	0.001168	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641844	106641844	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:106641844C>A	ENST00000390605.2	-	0	128																											CCAGACTGCACCAGCTGAACC	0.582000													35	53					1.836e-18	3.10059e-18	0.003755	1	0
DOCK9	23348	broad.mit.edu	37	13	99549811	99549811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:99549811G>A	ENST00000376460.1	-	15	1720	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	DOCK9_ENST00000448493.2_Missense_Mutation_p.A559V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A547V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A548V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	548					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGTAGATGGCAGAAAATCT	0.398000													57	198					0	0	0.003610	0	0
TXNDC12	51060	broad.mit.edu	37	1	52489195	52489195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:52489195C>A	ENST00000371626.4	-	6	1481	c.407G>T	c.(406-408)aGc>aTc	p.S136I	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	209	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATACTTGTAGCTGGGGTTTCC	0.418000													27	55					8.16721e-17	1.35167e-16	0.002096	1	0
IQGAP3	128239	broad.mit.edu	37	1	156507066	156507066	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:156507066T>A	ENST00000361170.2	-	27	3339	c.3329A>T	c.(3328-3330)gAg>gTg	p.E1110V	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1110	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTGGACCTCGGGGTGGCT	0.557000													26	49					0	0	0.003954	0	0
SNAP91	9892	broad.mit.edu	37	6	84375238	84375238	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:84375238C>T	ENST00000428679.2	-	3	786	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SNAP91_ENST00000369694.2_Missense_Mutation_p.E65K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E65K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E65K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E65K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E65K|SNAP91_ENST00000521743.1_Missense_Mutation_p.E65K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E65K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E65K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	65	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGCCCGCTCAAAGAGAGTG	0.383000													26	140					0	0	0.003330	0	0
COG6	57511	broad.mit.edu	37	13	40233511	40233511	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:40233511A>T	ENST00000416691.1	+	2	264	c.164A>T	c.(163-165)gAa>gTa	p.E55V	COG6_ENST00000455146.3_Missense_Mutation_p.E55V	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	55					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GAGATGTTAGAAGCTCTCAAG	0.323000													6	26					0	0	0.001168	0	0
ACSL5	51703	broad.mit.edu	37	10	114181795	114181795	+	Splice_Site	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:114181795T>A	ENST00000393081.1	+	16	1783		c.e16+2		ACSL5_ENST00000369410.3_Splice_Site|ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAAGGAGAGGTGGGTAGGTCA	0.458000													5	62					0	0	0.000602	0	0
GPR50	9248	broad.mit.edu	37	X	150349293	150349293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:150349293C>A	ENST00000218316.3	+	2	1307	c.1238C>A	c.(1237-1239)gCt>gAt	p.A413D		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	413	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCAAGGCTGCCTCTGGT	0.582000													125	354					2.91419e-48	5.51197e-48	0.003610	1	0
HAUS2	55142	broad.mit.edu	37	15	42850469	42850469	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:42850469T>G	ENST00000260372.3	+	2	230	c.167T>G	c.(166-168)aTt>aGt	p.I56S	HAUS2_ENST00000568846.2_Intron|HAUS2_ENST00000568876.1_Intron	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	56					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						ATCACAAATATTCAAGCTGAA	0.333000													6	15					0	0	0.004482	0	0
OR4K17	390436	broad.mit.edu	37	14	20586569	20586569	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:20586569C>A	ENST00000315543.4	+	1	1004	c.1004C>A	c.(1003-1005)gCt>gAt	p.A335D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTGGAGAGCTTTTGTGAAT	0.378000													13	15					1.05317e-09	1.48974e-09	0.002450	1	0
ITGA9	3680	broad.mit.edu	37	3	37536029	37536029	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:37536029C>T	ENST00000264741.5	+	5	838	c.582C>T	c.(580-582)tgC>tgT	p.C194C	ITGA9_ENST00000422441.1_Silent_p.C194C	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	194					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACGGCTCCTGCCAGGCTGGGA	0.522000													12	27					0	0	0.001368	0	0
COLEC12	81035	broad.mit.edu	37	18	346601	346601	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:346601T>A	ENST00000400256.3	-	5	1228	c.1021A>T	c.(1021-1023)Acg>Tcg	p.T341S		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	341					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACAATATCCGTCTCAAAGAGC	0.473000													22	26					0	0	0.001882	0	0
NWD1	284434	broad.mit.edu	37	19	16874727	16874727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:16874727G>T	ENST00000524140.2	+	9	2640	c.2222G>T	c.(2221-2223)cGc>cTc	p.R741L	NWD1_ENST00000379808.3_Missense_Mutation_p.R741L|NWD1_ENST00000339803.6_Missense_Mutation_p.R606L|NWD1_ENST00000552788.1_Missense_Mutation_p.R741L|NWD1_ENST00000549814.1_Missense_Mutation_p.R741L|NWD1_ENST00000523826.1_Missense_Mutation_p.R535L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	741							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACTCGGGCCGCCTGGAGGAG	0.617000													21	32					1.2644e-06	1.59435e-06	0.001523	1	0
ARMC3	219681	broad.mit.edu	37	10	23326202	23326202	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:23326202C>G	ENST00000298032.5	+	19	2497	c.2413C>G	c.(2413-2415)Ctg>Gtg	p.L805V	ARMC3_ENST00000376528.4_Missense_Mutation_p.L542V|ARMC3_ENST00000409983.3_Missense_Mutation_p.L798V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	805							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGCAGGCTCTGGCTGATAG	0.493000													10	43					0	0	0.001855	0	0
COL6A2	1292	broad.mit.edu	37	21	47545884	47545884	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:47545884C>A	ENST00000300527.4	+	26	2259	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	COL6A2_ENST00000310645.5_Silent_p.R719R|COL6A2_ENST00000357838.4_Silent_p.R719R|COL6A2_ENST00000409416.1_Silent_p.R719R|COL6A2_ENST00000397763.1_Silent_p.R719R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	719	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAAGGAGAGCCGGCGCCAGAA	0.637000													14	52					4.36969e-10	6.26133e-10	0.001855	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853136	53853136	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:53853136T>C	ENST00000331251.3	+	1	2146	c.669T>C	c.(667-669)taT>taC	p.Y223Y		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	223					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GTGTCCTCTATACCACCCTGC	0.662000													7	13					0	0	0.001984	0	0
ABTB2	25841	broad.mit.edu	37	11	34218979	34218979	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:34218979C>A	ENST00000435224.2	-	3	1561	c.1137G>T	c.(1135-1137)tgG>tgT	p.W379C	ABTB2_ENST00000298992.2_Missense_Mutation_p.W193C|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	193							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGTCGGGGGACCAAGTGATGG	0.662000													8	39					0.00307968	0.00347909	0.003080	1	0
ANO1	55107	broad.mit.edu	37	11	69970497	69970497	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:69970497G>C	ENST00000355303.5	+	9	1244	c.939G>C	c.(937-939)aaG>aaC	p.K313N	ANO1_ENST00000538023.1_Missense_Mutation_p.K313N|ANO1_ENST00000398543.2_Missense_Mutation_p.K197N|ANO1_ENST00000531349.1_Missense_Mutation_p.K48N|ANO1_ENST00000530676.1_Missense_Mutation_p.K197N|ANO1_ENST00000316296.5_Missense_Mutation_p.K285N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	313					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTTTCTATAAGTACCAGCCCA	0.572000													8	28					0	0	0.006214	0	0
ZNF317	57693	broad.mit.edu	37	19	9269521	9269521	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:9269521A>T	ENST00000247956.6	+	6	710	c.405A>T	c.(403-405)aaA>aaT	p.K135N	ZNF317_ENST00000360385.3_Missense_Mutation_p.K103N	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CTCCATCTAAAACCAAGTGGT	0.413000													4	26					0	0	0.000248	0	0
AQR	9716	broad.mit.edu	37	15	35174838	35174838	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:35174838T>A	ENST00000156471.5	-	27	3255	c.3030A>T	c.(3028-3030)gaA>gaT	p.E1010D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1010						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGCTCTGAATTCCTATGGAA	0.378000													7	30					0	0	0.004482	0	0
OR2W5	441932	broad.mit.edu	37	1	247654603	247654603	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:247654603C>A	ENST00000522351.1	+	0	234							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCACACACCCATGTACTTCT	0.498000													18	56					2.35188e-11	3.46758e-11	0.006122	1	0
FSHR	2492	broad.mit.edu	37	2	49190511	49190511	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:49190511G>C	ENST00000406846.2	-	10	1568	c.1449C>G	c.(1447-1449)ctC>ctG	p.L483L	FSHR_ENST00000304421.4_Silent_p.L457L|FSHR_ENST00000541117.1_Silent_p.L219L|FSHR_ENST00000346173.3_Silent_p.L421L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	483					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGCATGGCGGAGCTGCACCT	0.522000									Gonadal Dysgenesis, 46 XX				10	27					0	0	0.006214	0	0
TRPM7	54822	broad.mit.edu	37	15	50886737	50886737	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:50886737A>T	ENST00000313478.7	-	24	3645	c.3364T>A	c.(3364-3366)Tat>Aat	p.Y1122N	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1122N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1122					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTCATGATAAGCCATAATA	0.323000													10	49					0	0	0.006214	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459340	92459340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:92459340G>T	ENST00000318445.6	+	2	512	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G100W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	100					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GAGCTACTTCGGGGCACGCGG	0.672000													10	37					7.48243e-07	9.50742e-07	0.006214	1	0
BBS2	583	broad.mit.edu	37	16	56545071	56545071	+	Splice_Site	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:56545071C>G	ENST00000245157.5	-	3	891	c.471_splice	c.e3+1	p.T157_splice	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Splice_Site_p.T157_splice	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	157					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTCTTCATACCGTCCAAAAGA	0.363000									Bardet-Biedl syndrome				19	30					0	0	0.001523	0	0
RBM44	375316	broad.mit.edu	37	2	238726838	238726838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:238726838G>T	ENST00000316997.4	+	3	1411	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y	RBM44_ENST00000409864.1_Missense_Mutation_p.D427Y|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	426							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GGCAATAGAAGATAATACGTC	0.383000													23	31					6.44725e-10	9.17867e-10	0.002299	1	0
RNF34	80196	broad.mit.edu	37	12	121855448	121855448	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:121855448C>G	ENST00000361234.5	+	3	539	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V	RNF34_ENST00000392464.2_Missense_Mutation_p.L123V|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.L124V	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	123	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GGTGAAGGACCTGCGGCAGTA	0.433000													16	54					0	0	0.003163	0	0
KMO	8564	broad.mit.edu	37	1	241729848	241729848	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:241729848A>T	ENST00000366559.4	+	9	1056	c.745A>T	c.(745-747)Acc>Tcc	p.T249S	KMO_ENST00000366558.3_Missense_Mutation_p.T249S|KMO_ENST00000366557.4_Missense_Mutation_p.T249S	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	249					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAAACTTCTAACCAGTAATGA	0.403000													23	67					0	0	0.001882	0	0
MYL3	4634	broad.mit.edu	37	3	46899892	46899892	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:46899892C>T	ENST00000395869.1	-	5	592	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	MYL3_ENST00000292327.4_Missense_Mutation_p.G181S			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	181	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TTGATGCAGCCATTGGAGTCC	0.607000													12	46					0	0	0.000978	0	0
WRN	7486	broad.mit.edu	37	8	30973963	30973963	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:30973963A>T	ENST00000298139.5	+	20	2616	c.2367A>T	c.(2365-2367)ctA>ctT	p.L789L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	789	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACTGAATCTATCCTGTGGAA	0.388000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	42					0	0	0.003163	0	0
NARG2	79664	broad.mit.edu	37	15	60760341	60760341	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:60760341C>A	ENST00000261520.4	-	4	561	c.327G>T	c.(325-327)gtG>gtT	p.V109V	NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Silent_p.V109V	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	109						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCAACAAGTCCACATAACTCC	0.368000													9	27					3.09899e-07	3.97583e-07	0.004482	1	0
CSF2RB	1439	broad.mit.edu	37	22	37325452	37325452	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:37325452C>G	ENST00000262825.5	+	5	617	c.400C>G	c.(400-402)Cct>Gct	p.P134A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P134A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P75A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P134A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	134	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGTCCAGCCTCCTGAGCCCAG	0.652000													23	131					0	0	0.003954	0	0
TBX4	9496	broad.mit.edu	37	17	59556073	59556073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:59556073C>A	ENST00000393853.4	+	6	798	c.635C>A	c.(634-636)aCt>aAt	p.T212N	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.T212N			P57082	TBX4_HUMAN	T-box 4	212					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCAAAAACACTGCTTTCTGC	0.537000													28	127					1.75199e-13	2.70985e-13	0.007291	1	0
TNR	7143	broad.mit.edu	37	1	175332844	175332844	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:175332844C>A	ENST00000367674.1	-	13	3415	c.2707_splice	c.e13+1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTTTGTTACCTTGGGTGGGT	0.448000													21	56					9.95505e-16	1.61131e-15	0.002299	1	0
MMP17	4326	broad.mit.edu	37	12	132335517	132335517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:132335517G>T	ENST00000360564.1	+	10	1612	c.1510G>T	c.(1510-1512)Ggc>Tgc	p.G504C	MMP17_ENST00000535291.1_Missense_Mutation_p.G420C|MMP17_ENST00000535004.1_Missense_Mutation_p.G44C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	504	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		AGTGCTGGATGGCGAGCTGGA	0.652000													7	18					0.00621372	0.00694845	0.006214	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058942	79058942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:79058942G>C	ENST00000388820.4	-	19	3521	c.3311C>G	c.(3310-3312)gCg>gGg	p.A1104G		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					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						CGTGGAGGGCGCAGCAGGATG	0.677000													4	27					0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141660631	141660631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:141660631G>T	ENST00000389484.3	-	23	4595	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1208					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTTTTATTGTCTTTGTTGA	0.428000										TSP Lung(27;0.18)			14	49					1.52009e-12	2.29226e-12	0.003163	1	0
ABCA6	23460	broad.mit.edu	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:67108373C>T	ENST00000284425.2	-	16	2257	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	695	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368000													49	183					0	0	0.003610	0	0
EXOC6B	23233	broad.mit.edu	37	2	72742214	72742214	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:72742214C>T	ENST00000272427.6	-	9	1087	c.957G>A	c.(955-957)agG>agA	p.R319R	EXOC6B_ENST00000410104.1_Silent_p.R319R	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	319					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CCTGTTTTCGCCTCTGTTTTC	0.378000													4	18					0	0	0.000248	0	0
MKI67	4288	broad.mit.edu	37	10	129913899	129913899	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:129913899A>T	ENST00000368654.3	-	7	1148	c.773T>A	c.(772-774)cTa>cAa	p.L258Q	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	258					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACAATACTGTAGGACATTTTC	0.378000													6	18					0	0	0.001168	0	0
CTNND2	1501	broad.mit.edu	37	5	11022887	11022887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:11022887C>A	ENST00000304623.8	-	17	3182	c.2993G>T	c.(2992-2994)gGa>gTa	p.G998V	CTNND2_ENST00000503622.1_Missense_Mutation_p.G661V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G940V|CTNND2_ENST00000511377.1_Missense_Mutation_p.G907V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	998					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTACTTATCTCCTTTGCTTTT	0.483000													30	47					2.80507e-11	4.11742e-11	0.002445	1	0
CKAP5	9793	broad.mit.edu	37	11	46839864	46839864	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:46839864C>A	ENST00000529230.1	-	3	294	c.248G>T	c.(247-249)gGa>gTa	p.G83V	CKAP5_ENST00000415402.1_Missense_Mutation_p.G83V|CKAP5_ENST00000354558.3_Missense_Mutation_p.G83V|CKAP5_ENST00000312055.5_Missense_Mutation_p.G83V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	83					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACTTACTTTCCTGCTACATG	0.338000													9	69					0.00448238	0.00503792	0.004482	1	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													6	60					0	0	0.001984	0	0
HOXB3	3213	broad.mit.edu	37	17	46627892	46627892	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:46627892C>A	ENST00000470495.1	-	2	2547	c.1100G>T	c.(1099-1101)gGc>gTc	p.G367V	HOXB3_ENST00000498678.1_Missense_Mutation_p.G367V|HOXB3_ENST00000476342.1_Missense_Mutation_p.G367V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G294V|HOXB3_ENST00000485909.2_Missense_Mutation_p.G235V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.G233V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G367V|HOXB3_ENST00000460160.1_Missense_Mutation_p.G235V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G294V			P14651	HXB3_HUMAN	homeobox B3	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GAGGGAGGGGCCGGCAGGGGG	0.716000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	29					1.5739e-10	2.27493e-10	0.004007	1	0
ANK2	287	broad.mit.edu	37	4	114286264	114286264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:114286264C>A	ENST00000357077.4	+	41	11011	c.10958C>A	c.(10957-10959)aCa>aAa	p.T3653K	ANK2_ENST00000394537.3_Missense_Mutation_p.T1568K|ANK2_ENST00000509550.1_Missense_Mutation_p.T744K|ANK2_ENST00000506722.1_Missense_Mutation_p.T1559K|ANK2_ENST00000510275.2_Missense_Mutation_p.T220K|ANK2_ENST00000264366.6_Missense_Mutation_p.T3620K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3620					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3653K(1)		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)		GAGACCAACACAGAACCTCTC	0.413000													12	59					7.03913e-09	9.7284e-09	0.001368	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	C	A	rs139135884	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:57947582C>A	ENST00000335397.3	+	3	982	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000													34	93					4.39465e-27	7.99246e-27	0.002836	1	0
ZNF99	7652	broad.mit.edu	37	19	22952090	22952090	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:22952090C>G	ENST00000397104.3	-	2	102	c.103G>C	c.(103-105)Gct>Cct	p.A35P	ZNF99_ENST00000596209.1_Missense_Mutation_p.A14P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCTCCAGAGCGAATTCTATG	0.408000													28	56					0	0	0.006320	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739806	91739806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:91739806G>T	ENST00000389857.6	-	30	5336	c.5250C>A	c.(5248-5250)taC>taA	p.Y1750*	CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.Y274*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1750					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGGCTTTACGTACTGCCCGG	0.667000													9	10					1.76689e-08	2.40676e-08	0.006214	1	0
DOCK2	1794	broad.mit.edu	37	5	169145670	169145670	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:169145670G>T	ENST00000256935.8	+	22	2222	c.2142G>T	c.(2140-2142)atG>atT	p.M714I	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M206I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	714					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTGATGACAGTGCTGA	0.368000													17	17					1.99824e-07	2.59888e-07	0.004990	1	0
DMD	1756	broad.mit.edu	37	X	32407680	32407680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:32407680G>A	ENST00000357033.4	-	32	4662	c.4456C>T	c.(4456-4458)Cct>Tct	p.P1486S	DMD_ENST00000378677.2_Missense_Mutation_p.P1482S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1486	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCAATGCAGGCAAGTGCATC	0.413000													23	54					0	0	0.002780	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:79059831T>A	ENST00000388820.4	-	18	2959	c.2749A>T	c.(2749-2751)Agc>Tgc	p.S917C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	917	TSP type-1 3.				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						TCCAGGGCGCTCTGCTCATCC	0.701000													8	13					0	0	0.003080	0	0
PTPRC	5788	broad.mit.edu	37	1	198703530	198703530	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:198703530C>A	ENST00000367376.2	+	22	2418	c.2247C>A	c.(2245-2247)gtC>gtA	p.V749V	PTPRC_ENST00000352140.3_Silent_p.V701V|PTPRC_ENST00000442510.2_Silent_p.V751V|PTPRC_ENST00000594404.1_Silent_p.V588V|PTPRC_ENST00000348564.6_Silent_p.V590V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	749	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTCATGGTCACTCGATGTG	0.418000													103	251					5.12507e-49	9.72149e-49	0.003610	1	0
BCHE	590	broad.mit.edu	37	3	165547481	165547481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:165547481G>T	ENST00000264381.3	-	2	1507	c.1341C>A	c.(1339-1341)taC>taA	p.Y447*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	447					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTTCAAAATAGTAGAAAAAGG	0.428000													18	56					1.33834e-09	1.88106e-09	0.007413	1	0
VWF	7450	broad.mit.edu	37	12	6182846	6182846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:6182846G>T	ENST00000261405.5	-	8	1190	c.936C>A	c.(934-936)tgC>tgA	p.C312*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	312	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGGCTCTGGCAGGTCCTGG	0.542000													12	75					9.05144e-12	1.34351e-11	0.001855	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066944	40066944	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:40066944C>T	ENST00000336649.4	+	29	4542	c.4542C>T	c.(4540-4542)caC>caT	p.H1514H	CACNA1I_ENST00000404898.1_Silent_p.H1473H|CACNA1I_ENST00000407673.1_Silent_p.H1473H|CACNA1I_ENST00000402142.3_Silent_p.H1508H|CACNA1I_ENST00000401624.1_Silent_p.H1508H|CACNA1I_ENST00000400164.3_Silent_p.H1473H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1508					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCTGGAGCACTACAATCAGC	0.602000													15	69					0	0	0.004007	0	0
BEND5	79656	broad.mit.edu	37	1	49224782	49224782	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:49224782G>C	ENST00000371833.3	-	3	621	c.535C>G	c.(535-537)Ccc>Gcc	p.P179A	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	179										large_intestine(5)|lung(2)|skin(1)	8						AGAGCCCGGGGCACCACAGCA	0.627000													21	47					0	0	0.001523	0	0
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													9	40					0	0	0.006214	0	0
CACNA1E	777	broad.mit.edu	37	1	181764028	181764028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:181764028G>T	ENST00000526775.1	+	44	6035	c.5870G>T	c.(5869-5871)cGt>cTt	p.R1957L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1583L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1976L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1908L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2000L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2019L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1970L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2019					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCATGAGACGTTCATTTTCC	0.468000													14	43					2.48551e-13	3.82652e-13	0.004990	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709587	31709587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:31709587C>A	ENST00000382835.2	-	1	425	c.400G>T	c.(400-402)Gca>Tca	p.A134S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	134						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGGCTTGCAGGTTGGCAG	0.483000													41	175					3.4345e-17	5.74151e-17	0.002852	1	0
C6orf118	168090	broad.mit.edu	37	6	165715399	165715399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:165715399G>T	ENST00000543069.1	-	2	681	c.100C>A	c.(100-102)Ctt>Att	p.L34I	C6orf118_ENST00000230301.8_Missense_Mutation_p.L138I			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	138										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGTGGGAAAGAGAGGCCTGG	0.617000													6	135					1.06961e-07	1.41053e-07	0.003080	1	0
B3GALT5	10317	broad.mit.edu	37	21	41032852	41032852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:41032852G>T	ENST00000380620.3	+	5	958	c.366G>T	c.(364-366)aaG>aaT	p.K122N	B3GALT5_ENST00000343118.4_Missense_Mutation_p.K122N|B3GALT5_ENST00000398714.2_Missense_Mutation_p.K122N|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.K122N			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	122					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TTATCCAGAAGGATTTCCTAG	0.522000													18	61					6.49762e-13	9.88833e-13	0.006122	1	0
RBMX	27316	broad.mit.edu	37	X	135956515	135956515	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:135956515C>A	ENST00000320676.7	-	9	1116	c.962G>T	c.(961-963)gGt>gTt	p.G321V	RBMX_ENST00000565438.1_Missense_Mutation_p.G193V|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Missense_Mutation_p.G186V	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	321						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCGACTTCCACCATATCCGTC	0.532000													15	302					4.11147e-13	6.2859e-13	0.003755	1	0
TMEM38B	55151	broad.mit.edu	37	9	108483876	108483876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:108483876G>T	ENST00000374688.1	+	3	876	c.166G>T	c.(166-168)Gtt>Ttt	p.V56F	TMEM38B_ENST00000374692.3_Missense_Mutation_p.V110F			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	110						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ATATCTACCTGTTCAACTACT	0.363000													10	29					0.00010058	0.000118688	0.001368	1	0
SBK1	388228	broad.mit.edu	37	16	28328794	28328794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:28328794G>T	ENST00000341901.4	+	2	871	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	28						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGTGCCGGTGTGCCCCT	0.672000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	67					4.72057e-08	6.31317e-08	0.003954	1	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:139866350G>T	ENST00000370532.2	-	1	373	c.182C>A	c.(181-183)aCg>aAg	p.T61K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438000													84	185					1.26005e-42	2.37651e-42	0.003610	1	0
SMUG1	23583	broad.mit.edu	37	12	54577464	54577464	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:54577464T>A	ENST00000505128.1	-	3	383	c.261A>T	c.(259-261)ggA>ggT	p.G87G	SMUG1_ENST00000508394.2_Silent_p.G87G|SMUG1_ENST00000514196.1_Silent_p.G87G|SMUG1_ENST00000506595.1_Silent_p.G87G|SMUG1_ENST00000513838.1_Silent_p.G87G|SMUG1_ENST00000243112.5_Silent_p.G87G|SMUG1_ENST00000514685.1_Silent_p.G87G|SMUG1_ENST00000337581.3_Silent_p.G87G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000401977.2_Silent_p.G87G			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	87				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGCCAAAAGGTCCAGGGTTCA	0.582000								Base excision repair (BER), DNA glycosylases					8	57					0	0	0.004482	0	0
KRT5	3852	broad.mit.edu	37	12	52911448	52911448	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:52911448C>A	ENST00000252242.4	-	5	1408	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	340	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGACCTCAGCGATGATGCTA	0.577000													19	127					2.39187e-15	3.84918e-15	0.008871	1	0
SPI1	6688	broad.mit.edu	37	11	47381421	47381421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:47381421G>A	ENST00000378538.3	-	3	535	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	SPI1_ENST00000227163.4_Missense_Mutation_p.P106S|SPI1_ENST00000533968.1_Missense_Mutation_p.P105S|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CCAAGACTGGGATGGGGTGGC	0.677000													22	40					0	0	0.004656	0	0
OR2C1	4993	broad.mit.edu	37	16	3406235	3406235	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:3406235A>G	ENST00000304936.2	+	1	347	c.295A>G	c.(295-297)Acc>Gcc	p.T99A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGCTGCATAACCCAGCTCTA	0.567000													8	70					0	0	0.003080	0	0
BCAM	4059	broad.mit.edu	37	19	45322968	45322968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:45322968G>T	ENST00000391955.1	+	13	1792	c.1748G>T	c.(1747-1749)cGg>cTg	p.R583L	BCAM_ENST00000270233.6_Missense_Mutation_p.R583L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	583					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCAGCGGCGGGAGAAGGGG	0.637000													8	10					2.17888e-05	2.63215e-05	0.006214	1	0
FETUB	26998	broad.mit.edu	37	3	186358347	186358347	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:186358347C>T	ENST00000265029.3	+	1	199	c.98C>T	c.(97-99)tCc>tTc	p.S33F	FETUB_ENST00000450521.1_Missense_Mutation_p.S33F|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Missense_Mutation_p.S33F|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.S33F	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	33	Cystatin fetuin-B-type 1.		S -> P (in dbSNP:rs34522046).			extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCTCTGCTCTCCCGGGGCTGC	0.577000													95	181					0	0	0.003610	0	0
SGCZ	137868	broad.mit.edu	37	8	13959971	13959971	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:13959971G>A	ENST00000382080.1	-	7	1373	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	SGCZ_ENST00000421524.2_Missense_Mutation_p.P173S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	207					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCCACGGGGAGCTTCCATG	0.448000													5	34					0	0	0.000602	0	0
AMY2A	279	broad.mit.edu	37	1	104163185	104163185	+	Missense_Mutation	SNP	G	G	T	rs142529431		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:104163185G>T	ENST00000414303.2	+	5	821	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	253					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AATTGATCTGGGTGGTGAGCC	0.348000													27	207					2.61675e-31	4.81192e-31	0.003214	1	0
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:111785291C>A	ENST00000452346.2	+	13	1611	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	TMPRSS7_ENST00000419127.1_Silent_p.L410L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGCCCTCTCATCTGTGATG	0.507000													25	95					5.45727e-16	8.85469e-16	0.008361	1	0
ZFP82	284406	broad.mit.edu	37	19	36884554	36884554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:36884554C>A	ENST00000392161.3	-	5	930	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.E230*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCCCACATTCCTTACATTCA	0.418000													15	84					1.5739e-10	2.27493e-10	0.004007	1	0
OR4A16	81327	broad.mit.edu	37	11	55111360	55111360	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:55111360G>A	ENST00000314721.2	+	1	734	c.684G>A	c.(682-684)caG>caA	p.Q228Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTACAGTCAGGAAGAGAGGC	0.428000													19	104					0	0	0.006122	0	0
GBAS	2631	broad.mit.edu	37	7	56062641	56062641	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:56062641C>G	ENST00000322090.3	+	8	701	c.672C>G	c.(670-672)ttC>ttG	p.F224L	GBAS_ENST00000446778.1_Missense_Mutation_p.F185L	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	224						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGATTCTTCTCTCAGATTG	0.438000													4	99					0	0	0.000602	0	0
TRAF2	7186	broad.mit.edu	37	9	139814764	139814764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:139814764G>C	ENST00000359662.3	+	8	958	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.E253Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E253Q			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	253				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTCGGTGCTGGAGGCAAAGCC	0.622000													10	34					0	0	0.006214	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214469	7214469	+	Silent	SNP	C	C	A	rs145957081	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:7214469C>A	ENST00000361972.4	-	18	2229	c.2139G>T	c.(2137-2139)gcG>gcT	p.A713A	SFMBT2_ENST00000397167.1_Silent_p.A713A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					regulation of transcription, DNA-dependent	nucleus		p.A713A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCCCCGAGCCCGCGGTGAAGT	0.642000													7	17					0.00198382	0.00224494	0.001984	1	0
RIMS2	9699	broad.mit.edu	37	8	105025673	105025673	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:105025673T>G	ENST00000507740.1	+	16	2726	c.2490T>G	c.(2488-2490)gaT>gaG	p.D830E	RIMS2_ENST00000406091.3_Missense_Mutation_p.D1016E|RIMS2_ENST00000262231.10_Missense_Mutation_p.D855E|RIMS2_ENST00000436393.2_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1078	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTCAGGGATTGTGAAGCAG	0.448000										HNSCC(12;0.0054)			10	37					0	0	0.000978	0	0
SPATA20	64847	broad.mit.edu	37	17	48628411	48628411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:48628411T>C	ENST00000006658.6	+	12	1556	c.1436T>C	c.(1435-1437)cTg>cCg	p.L479P	SPATA20_ENST00000393244.3_Missense_Mutation_p.L419P|SPATA20_ENST00000356488.4_Missense_Mutation_p.L463P|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	463					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTACTCGCTGGAGCTGACT	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					0	0	0.000978	0	0
MED12	9968	broad.mit.edu	37	X	70345560	70345560	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:70345560T>G	ENST00000333646.6	+	17	2618	c.2419T>G	c.(2419-2421)Tta>Gta	p.L807V	MED12_ENST00000374080.3_Missense_Mutation_p.L807V|MED12_ENST00000374102.1_Missense_Mutation_p.L807V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	807					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGACATTCTTAGGTACCTC	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	68					0	0	0.004007	0	0
UEVLD	55293	broad.mit.edu	37	11	18591865	18591865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:18591865G>A	ENST00000396197.3	-	4	281	c.253C>T	c.(253-255)Cct>Tct	p.P85S	UEVLD_ENST00000379387.4_Missense_Mutation_p.P63S|UEVLD_ENST00000320750.6_Missense_Mutation_p.P63S|UEVLD_ENST00000535484.1_Missense_Mutation_p.P47S|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000300038.7_Missense_Mutation_p.P85S|UEVLD_ENST00000543987.1_Missense_Mutation_p.P85S|UEVLD_ENST00000541984.1_Intron	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	85	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AAGCAAATAGGGGGAGCGAAA	0.368000													8	26					0	0	0.004482	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746269	110746269	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:110746269G>T	ENST00000368919.3	-	8	1607	c.1541C>A	c.(1540-1542)gCc>gAc	p.A514D	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480D	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTCAGGAGGGCCATAGTCCC	0.423000													16	42					3.41278e-10	4.90079e-10	0.004990	1	0
MARCH1	55016	broad.mit.edu	37	4	164534471	164534471	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:164534471G>A	ENST00000503008.1	-	5	1213	c.237C>T	c.(235-237)atC>atT	p.I79I	MARCH1_ENST00000514618.1_Silent_p.I79I|MARCH1_ENST00000274056.7_Silent_p.I79I|MARCH1_ENST00000339875.5_Silent_p.I62I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	79					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTACCTGCAGATGTCCTGAG	0.428000													7	66					0	0	0.004482	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980044	10980044	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:10980044G>C	ENST00000254488.2	+	14	1921	c.1855G>C	c.(1855-1857)Gac>Cac	p.D619H		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	619					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCAAGAGTGACGGGACCAT	0.552000													4	89					0	0	0.000602	0	0
URI1	8725	broad.mit.edu	37	19	30477230	30477230	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:30477230C>T	ENST00000392271.1	+	4	570	c.45C>T	c.(43-45)gtC>gtT	p.V15V	URI1_ENST00000360605.4_Silent_p.V73V|URI1_ENST00000312051.6_Silent_p.V51V|URI1_ENST00000542441.2_Silent_p.V91V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	91					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GAAAACTTGTCCATACTAATG	0.388000													17	86					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56341021	56341021	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:56341021T>C	ENST00000370754.5	-	92	21696	c.21697A>G	c.(21697-21699)Aca>Gca	p.T7233A	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7055A|DST_ENST00000421834.2_Missense_Mutation_p.T4967A|DST_ENST00000446842.2_Missense_Mutation_p.T6729A|DST_ENST00000361203.3_Missense_Mutation_p.T6944A|DST_ENST00000244364.6_Missense_Mutation_p.T4641A|DST_ENST00000370788.2_Missense_Mutation_p.T4858A			Q03001	DYST_HUMAN	dystonin	7053	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGTAAGTGTAGTTTCAGCC	0.433000													7	18					0	0	0.003080	0	0
ZNF609	23060	broad.mit.edu	37	15	64966165	64966165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:64966165G>T	ENST00000326648.3	+	4	1240	c.1112G>T	c.(1111-1113)aGa>aTa	p.R371I	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	371						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCGGGGTAGAGGCAAACGC	0.498000													14	80					2.32078e-09	3.255e-09	0.003163	1	0
MYOZ3	91977	broad.mit.edu	37	5	150051463	150051463	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:150051463G>A	ENST00000297130.4	+	5	616	c.417G>A	c.(415-417)ctG>ctA	p.L139L	MYOZ3_ENST00000517768.1_Silent_p.L139L|CTC-345K18.2_ENST00000511626.2_RNA	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	139						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCGCCCTGGCGCCAGGTG	0.736000													4	4					0	0	0.000248	0	0
SEMG2	6407	broad.mit.edu	37	20	43851084	43851084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:43851084A>G	ENST00000372769.3	+	2	901	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	271	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACACCAGACAAAAAATCTCAG	0.418000													29	25					0	0	0.006320	0	0
LRTM1	57408	broad.mit.edu	37	3	54958689	54958689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:54958689G>T	ENST00000273286.5	-	2	723	c.561C>A	c.(559-561)caC>caA	p.H187Q	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.H111Q	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	187	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GACCGAGCAAGTGGCAATTGC	0.468000													26	60					1.77063e-15	2.85892e-15	0.005443	1	0
STK11IP	114790	broad.mit.edu	37	2	220477903	220477903	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:220477903G>T	ENST00000456909.1	+	20	2583	c.2493G>T	c.(2491-2493)gtG>gtT	p.V831V	STK11IP_ENST00000295641.10_Silent_p.V842V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	842					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTTGTGTCTGACCGCA	0.592000													7	38					3.09899e-07	3.97583e-07	0.004482	1	0
FBLN1	2192	broad.mit.edu	37	22	45929726	45929726	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:45929726G>T	ENST00000348697.2	+	7	879	c.732G>T	c.(730-732)cgG>cgT	p.R244R	FBLN1_ENST00000442170.2_Silent_p.R244R|FBLN1_ENST00000402984.3_Silent_p.R282R|FBLN1_ENST00000340923.5_Silent_p.R244R|FBLN1_ENST00000262722.7_Silent_p.R244R|FBLN1_ENST00000327858.6_Silent_p.R244R			P23142	FBLN1_HUMAN	fibulin 1	244	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGCCAGCGGGACAGCAGCT	0.572000													40	136					1.06522e-23	1.90074e-23	0.003214	1	0
CDC5L	988	broad.mit.edu	37	6	44397514	44397514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:44397514C>G	ENST00000371477.3	+	14	2257	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	653	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGAGCTCTCAAGTGAAGCT	0.428000													15	63					0	0	0.004990	0	0
PAPOLG	64895	broad.mit.edu	37	2	60987422	60987422	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:60987422G>C	ENST00000238714.3	+	2	420	c.171G>C	c.(169-171)ttG>ttC	p.L57F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	57					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGGAAGAATTGAACCACAGGT	0.323000													4	40					0	0	0.000602	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703849	7703849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:7703849G>T	ENST00000340209.4	+	9	1102	c.805G>T	c.(805-807)Gcg>Tcg	p.A269S	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A284S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A237S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A284S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A221S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A307S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A284S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A307S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A281S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	264					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCCACCGCCGCGGCCGCCTA	0.711000													17	63					2.37509e-13	3.66506e-13	0.001523	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291725	141291725	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:141291725G>T	ENST00000247452.3	-	3	396	c.49C>A	c.(49-51)Ccg>Acg	p.P17T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	17						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGAGGTCGGGGAGTCGTTG	0.512000										HNSCC(46;0.14)			68	175					9.53695e-23	1.67911e-22	0.003610	1	0
SPATA21	374955	broad.mit.edu	37	1	16725938	16725938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:16725938C>A	ENST00000335496.1	-	12	1735	c.1253G>T	c.(1252-1254)aGg>aTg	p.R418M	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.R395M	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	418							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTCGGCTGCCTACGGACCAT	0.597000													13	42					0.000151284	0.000177571	0.001855	1	0
CATSPERD	257062	broad.mit.edu	37	19	5745958	5745958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:5745958G>T	ENST00000381624.3	+	9	753	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	231						integral to membrane											CCCCTCAACCGGAGTTTCGGG	0.527000													86	143					1.68737e-39	3.15547e-39	0.003610	1	0
TGFBR2	7048	broad.mit.edu	37	3	30713590	30713590	+	Silent	SNP	C	C	T	rs146030104	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:30713590C>T	ENST00000295754.5	+	4	1297	c.915C>T	c.(913-915)ctC>ctT	p.L305L	TGFBR2_ENST00000359013.4_Silent_p.L330L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	305	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAACATACTCCAGTTCCTGA	0.517000													18	64					0	0	0.007413	0	0
OR2W3	343171	broad.mit.edu	37	1	248059225	248059225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:248059225C>A	ENST00000537741.1	+	3	594	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	OR2W3_ENST00000360358.3_Missense_Mutation_p.L113M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGAGTGCCTGCTTCTGGC	0.572000													19	67					4.35082e-09	6.07646e-09	0.001523	1	0
MEPE	56955	broad.mit.edu	37	4	88766489	88766489	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:88766489C>A	ENST00000497649.2	+	6	775	c.397C>A	c.(397-399)Cca>Aca	p.P133T	MEPE_ENST00000540395.1_Missense_Mutation_p.P44T|MEPE_ENST00000424957.3_Missense_Mutation_p.P157T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.P157T|MEPE_ENST00000395102.4_Missense_Mutation_p.P188T|MEPE_ENST00000560249.1_Missense_Mutation_p.P44T			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	157					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TATAATGGGGCCAGTGACTGC	0.408000													20	29					2.27731e-05	2.74604e-05	0.001882	1	0
PCDH15	65217	broad.mit.edu	37	10	56287577	56287577	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:56287577C>T	ENST00000373965.2	-	3	546	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	PCDH15_ENST00000414778.1_Missense_Mutation_p.R56Q|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R51Q|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000320301.6_Missense_Mutation_p.R51Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R51Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	51	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACCATTCCGACTTTCTTC	0.338000										HNSCC(58;0.16)			8	37					0	0	0.006214	0	0
OR2M5	127059	broad.mit.edu	37	1	248308855	248308855	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:248308855A>T	ENST00000366476.1	+	1	406	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CACCAATCTCATGAGACCCAA	0.448000													67	356					0	0	0.003610	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519823	64519823	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:64519823T>G	ENST00000355086.3	+	19	2815	c.2291T>G	c.(2290-2292)tTc>tGc	p.F764C	SRGAP1_ENST00000543397.1_Missense_Mutation_p.F701C|SRGAP1_ENST00000357825.3_Missense_Mutation_p.F741C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	764	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAACTATCCTTCAAGAAGGGT	0.512000													12	53					0	0	0.000978	0	0
ADH6	130	broad.mit.edu	37	4	100131439	100131439	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:100131439G>T	ENST00000394897.1	-	5	449	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.L123M|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000237653.7_Missense_Mutation_p.L123M			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	123					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCAGACATCAGTTGGGTTTTT	0.333000													17	40					4.75885e-15	7.62799e-15	0.004990	1	0
STARD8	9754	broad.mit.edu	37	X	67937571	67937571	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:67937571C>G	ENST00000252336.6	+	5	947	c.575C>G	c.(574-576)gCc>gGc	p.A192G	STARD8_ENST00000374599.3_Missense_Mutation_p.A272G|STARD8_ENST00000374597.3_Missense_Mutation_p.A192G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCAGTGGTGCCAATACTCGG	0.622000													27	58					0	0	0.006320	0	0
KIF19	124602	broad.mit.edu	37	17	72347009	72347009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:72347009C>A	ENST00000389916.4	+	12	1690	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M	AC103809.2_ENST00000599136.1_Missense_Mutation_p.R101M	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	518					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGCAGCCCTGGTGGACGA	0.612000													51	120					2.23044e-30	4.07886e-30	0.003610	1	0
FBXL13	222235	broad.mit.edu	37	7	102517935	102517935	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:102517935A>G	ENST00000393772.2	-	16	2040	c.1614T>C	c.(1612-1614)tcT>tcC	p.S538S	FBXL13_ENST00000436908.1_Silent_p.S538S|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.S538S|FBXL13_ENST00000379305.3_Silent_p.S538S|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Silent_p.S538S|FBXL13_ENST00000379308.3_Silent_p.S538S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	538										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TGTCTGTTCCAGAGAGATCTA	0.284000													22	27					0	0	0.002780	0	0
TGM6	343641	broad.mit.edu	37	20	2381054	2381054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:2381054G>T	ENST00000202625.2	+	7	1014	c.953G>T	c.(952-954)gGg>gTg	p.G318V	TGM6_ENST00000381423.1_Missense_Mutation_p.G318V|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	318					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GACTCCTTCGGGCGGACCCTG	0.617000													27	34					5.77227e-19	9.79806e-19	0.008361	1	0
LATS1	9113	broad.mit.edu	37	6	150004837	150004837	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:150004837T>C	ENST00000543571.1	-	4	1935	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	LATS1_ENST00000392273.3_Missense_Mutation_p.N463S|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.N463S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	463					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)		ATTAAAAGAATTTGACCTCAC	0.453000													78	114					0	0	0.003610	0	0
COG6	57511	broad.mit.edu	37	13	40261879	40261879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:40261879G>T	ENST00000416691.1	+	10	1052	c.952G>T	c.(952-954)Gct>Tct	p.A318S	COG6_ENST00000455146.3_Missense_Mutation_p.A318S	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	318					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GCTCCATCAAGCTACTGCTTC	0.378000													24	48					4.7796e-09	6.63333e-09	0.004656	1	0
GPR50	9248	broad.mit.edu	37	X	150349627	150349627	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:150349627C>A	ENST00000218316.3	+	2	1641	c.1572C>A	c.(1570-1572)gcC>gcA	p.A524A		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	524	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAGCCTGCCACTACCAGCC	0.612000													50	176					2.0833e-19	3.5545e-19	0.003610	1	0
DROSHA	29102	broad.mit.edu	37	5	31495408	31495408	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:31495408C>A	ENST00000511367.2	-	11	1984	c.1740G>T	c.(1738-1740)ccG>ccT	p.P580P	DROSHA_ENST00000344624.3_Silent_p.P580P|DROSHA_ENST00000442743.1_Silent_p.P543P|DROSHA_ENST00000513349.1_Silent_p.P543P	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	580	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGTTCGTAGGCGGGGAGACTG	0.383000													10	18					3.86212e-05	4.61502e-05	0.008291	1	0
AURKC	6795	broad.mit.edu	37	19	57744036	57744036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:57744036G>C	ENST00000302804.7	+	4	609	c.423G>C	c.(421-423)caG>caC	p.Q141H	AURKC_ENST00000598785.1_Missense_Mutation_p.Q107H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q107H|AURKC_ENST00000415300.2_Missense_Mutation_p.Q122H|AURKC_ENST00000599062.1_Missense_Mutation_p.Q138H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	141	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		TAGATGAACAGCGCACAGCCA	0.552000													6	40					0	0	0.001168	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771078	99771078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:99771078G>A	ENST00000370597.3	-	2	396	c.41C>T	c.(40-42)cCg>cTg	p.P14L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	14						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGCAGGAACGGTAACATCCT	0.512000													16	92					0	0	0.004007	0	0
MUC5B	727897	broad.mit.edu	37	11	1271948	1271948	+	Missense_Mutation	SNP	T	T	G	rs2943495		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:1271948T>G	ENST00000447027.1	+	31	13905	c.13847T>G	c.(13846-13848)cTc>cGc	p.L4616R	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4613R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4613	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACTCACGCCTCCA	0.647000													3	44					0	0	0.004672	0	0
XYLT1	64131	broad.mit.edu	37	16	17211743	17211743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:17211743C>A	ENST00000261381.6	-	11	2401	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	773					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCCCTTCCCCCACTTCTGC	0.567000													23	64					2.89027e-11	4.23309e-11	0.002299	1	0
MUC16	94025	broad.mit.edu	37	19	9084596	9084596	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:9084596G>T	ENST00000397910.4	-	1	7422	c.7219C>A	c.(7219-7221)Ctc>Atc	p.L2407I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2407	Ser-rich.|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						GAAGAGAAGAGAGATGGGGAG	0.473000													18	20					1.33834e-09	1.88106e-09	0.007413	1	0
SLC10A5	347051	broad.mit.edu	37	8	82607015	82607015	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:82607015C>G	ENST00000518568.1	-	1	1394	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	65						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTAGGATCTTCTATTTTCACA	0.368000													28	53					0	0	0.005443	0	0
GPR156	165829	broad.mit.edu	37	3	119886566	119886566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:119886566C>A	ENST00000464295.1	-	10	2203	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	GPR156_ENST00000315843.3_Missense_Mutation_p.M586I|GPR156_ENST00000461057.1_Missense_Mutation_p.M582I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	586						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGGAGAGGGGCATCTTTTGGG	0.607000													10	49					4.68919e-08	6.29664e-08	0.008291	1	0
VCX3B	425054	broad.mit.edu	37	X	8434331	8434331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:8434331G>T	ENST00000381032.1	+	3	955	c.648G>T	c.(646-648)caG>caT	p.Q216H	VCX3B_ENST00000444481.1_Missense_Mutation_p.Q186H|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.Q184H|VCX3B_ENST00000440654.2_Missense_Mutation_p.Q166H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CACTGAGTCAGGAGAGCCAGG	0.562000													23	295					2.65835e-16	4.34525e-16	0.007291	1	0
ZNF516	9658	broad.mit.edu	37	18	74091609	74091609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:74091609C>G	ENST00000443185.2	-	4	2778	c.2461G>C	c.(2461-2463)Gcc>Ccc	p.A821P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCACCGAGGGCAGGCGGGGGG	0.612000													26	49					0	0	0.003954	0	0
KCNT1	57582	broad.mit.edu	37	9	138656985	138656985	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:138656985A>T	ENST00000298480.5	+	12	1218	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	KCNT1_ENST00000487664.1_Nonsense_Mutation_p.K337*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.K363*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.K343*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.K382*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.K349*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.K363*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	382						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCTCAAGATCGACCT	0.642000													25	79					0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113173854	113173854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:113173854T>C	ENST00000401783.2	-	37	6473	c.6137A>G	c.(6136-6138)tAc>tGc	p.Y2046C	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2023C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2046	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCAGAGCAGTAGTAGAATGC	0.552000													11	23					0	0	0.000978	0	0
LRRC55	219527	broad.mit.edu	37	11	56954808	56954808	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:56954808C>T	ENST00000497933.1	+	2	1027	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	264						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCTGCCACCTGACCCTGAC	0.582000													18	78					0	0	0.004990	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130831345	130831345	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:130831345C>T	ENST00000509018.1	-	13	1633	c.1428G>A	c.(1426-1428)cgG>cgA	p.R476R	RAPGEF6_ENST00000512052.1_Silent_p.R191R|RAPGEF6_ENST00000308008.6_Silent_p.R476R|RAPGEF6_ENST00000510071.1_Silent_p.R476R|RAPGEF6_ENST00000296859.6_Silent_p.R476R|FNIP1_ENST00000514667.1_Silent_p.R526R|RAPGEF6_ENST00000507093.1_Silent_p.R476R|RAPGEF6_ENST00000307984.5_Silent_p.R476R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	476	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAATACAATCCGTGTCACCT	0.358000													5	27					0	0	0.001168	0	0
SCFD2	152579	broad.mit.edu	37	4	53773703	53773703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:53773703C>T	ENST00000401642.3	-	7	1896	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	SCFD2_ENST00000388940.4_Intron	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	588					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAATCTGGCCTCTCGGGATG	0.403000													37	51					0	0	0.004289	0	0
MPL	4352	broad.mit.edu	37	1	43805148	43805148	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:43805148C>A	ENST00000372470.3	+	4	640	c.598C>A	c.(598-600)Cct>Act	p.P200T	MPL_ENST00000413998.2_Missense_Mutation_p.P200T	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	200	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGCAGAGGCCTCACTCAGC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						29	70					1.16021e-09	1.63765e-09	0.007291	1	0
RIT2	6014	broad.mit.edu	37	18	40503615	40503615	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:40503615G>A	ENST00000590910.1	-	5	539	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RIT2_ENST00000326695.5_Silent_p.L116L|RIT2_ENST00000282028.4_Silent_p.L116L|RIT2_ENST00000589109.1_Silent_p.L116L			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGAAAAATGAGCTCTTTAA	0.507000													97	138					0	0	0.003610	0	0
DUS3L	56931	broad.mit.edu	37	19	5789498	5789498	+	Missense_Mutation	SNP	C	C	A	rs34998818	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:5789498C>A	ENST00000309061.7	-	3	716	c.620G>T	c.(619-621)cGc>cTc	p.R207L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	207					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGGCCGTTGCGGATGGACGG	0.721000													5	24					0.000602214	0.000690929	0.000602	1	0
SH3BP1	23616	broad.mit.edu	37	22	38040682	38040682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:38040682G>T	ENST00000599616.1	+	6	465	c.465G>T	c.(463-465)aaG>aaT	p.K155N	SH3BP1_ENST00000442465.2_Missense_Mutation_p.K219N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K219N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K219N|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	219	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TTGTTACCAAGGAGGACTCCT	0.587000													38	176					1.30091e-30	2.3856e-30	0.006999	1	0
TNR	7143	broad.mit.edu	37	1	175372666	175372666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:175372666C>G	ENST00000367674.1	-	4	1294	c.586G>C	c.(586-588)Ggc>Cgc	p.G196R	TNR_ENST00000263525.2_Missense_Mutation_p.G196R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	196	Cys-rich.|EGF-like 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAATTCTTGCCAAACCAGCCT	0.577000													22	134					0	0	0.002299	0	0
RELB	5971	broad.mit.edu	37	19	45540760	45540760	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:45540760C>G	ENST00000221452.8	+	12	1602	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	RELB_ENST00000540120.1_Silent_p.L484L|RELB_ENST00000505236.1_Silent_p.L481L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	484						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGCCTGACCTCCTGGACGATG	0.682000													8	90					0	0	0.003080	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956212	45956212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:45956212C>T	ENST00000275521.6	-	3	818	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	IGFBP3_ENST00000381083.4_Missense_Mutation_p.V235M|IGFBP3_ENST00000381086.5_Missense_Mutation_p.V132M	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	229	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	GGACTCAGCACATTGAGGAAC	0.478000													57	66					0	0	0.003610	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757176	135757176	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:135757176G>T	ENST00000250617.6	-	19	3230	c.2025C>A	c.(2023-2025)ggC>ggA	p.G675G	ARHGEF6_ENST00000370622.1_Silent_p.G521G|ARHGEF6_ENST00000535227.1_Silent_p.G548G|ARHGEF6_ENST00000370620.1_Silent_p.G521G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	675					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTGAGCCATGGCCTTGTTGAA	0.423000													20	69					2.98393e-07	3.85813e-07	0.002780	1	0
TXNDC15	79770	broad.mit.edu	37	5	134223588	134223588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:134223588G>T	ENST00000358387.4	+	2	932	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	TXNDC15_ENST00000546290.1_Missense_Mutation_p.D80Y	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	103					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAGCTGAGGACAAAGTGAG	0.607000													8	40					0.000442599	0.000509567	0.006214	1	0
L1CAM	3897	broad.mit.edu	37	X	153133826	153133826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:153133826G>T	ENST00000370060.1	-	14	1823	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	L1CAM_ENST00000543994.1_Missense_Mutation_p.P547H|L1CAM_ENST00000538883.1_Missense_Mutation_p.P547H|L1CAM_ENST00000370055.1_Missense_Mutation_p.P540H|L1CAM_ENST00000370057.3_Missense_Mutation_p.P545H|L1CAM_ENST00000361699.4_Missense_Mutation_p.P545H|L1CAM_ENST00000361981.3_Missense_Mutation_p.P540H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	545	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAAGGAGGGGTCAAAGGA	0.602000													58	228					1.95512e-22	3.42405e-22	0.003610	1	0
CHRNA10	57053	broad.mit.edu	37	11	3687438	3687438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:3687438C>A	ENST00000250699.2	-	5	1323	c.1252G>T	c.(1252-1254)Gac>Tac	p.D418Y	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	418					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCTTCCAGTCCTCATGGCAG	0.637000													15	78					3.45872e-05	4.15548e-05	0.004007	1	0
IMMT	10989	broad.mit.edu	37	2	86371740	86371740	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:86371740C>T	ENST00000410111.3	-	15	2315	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	IMMT_ENST00000449247.2_Missense_Mutation_p.R632Q|IMMT_ENST00000442664.2_Missense_Mutation_p.R642Q|IMMT_ENST00000254636.5_Missense_Mutation_p.R544Q|IMMT_ENST00000409051.2_Missense_Mutation_p.R596Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	643						integral to mitochondrial inner membrane	protein binding	p.R643Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTACCCTTCGGGCCAGTTT	0.512000													8	166					0	0	0.004482	0	0
CAPN6	827	broad.mit.edu	37	X	110494310	110494310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:110494310G>T	ENST00000324068.1	-	8	1160	c.993C>A	c.(991-993)tgC>tgA	p.C331*	CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C76*	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	331	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAAAGTTGCGGCAAAAGTCCT	0.438000													223	394					2.48234e-129	4.73576e-129	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168103850	168103850	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:168103850C>T	ENST00000409195.1	+	9	6037	c.5948C>T	c.(5947-5949)cCa>cTa	p.P1983L	XIRP2_ENST00000409273.1_Missense_Mutation_p.P1761L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1983L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1808					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCAGGTCCATTTGAGCCA	0.473000													26	37					0	0	0.003954	0	0
PDGFC	56034	broad.mit.edu	37	4	157732074	157732074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:157732074C>T	ENST00000502773.1	-	3	900	c.410G>A	c.(409-411)gGa>gAa	p.G137E	PDGFC_ENST00000422544.2_Missense_Mutation_p.G137E|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000542208.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	137	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTGATTTCCTTTAGAAAT	0.398000													20	28					0	0	0.007413	0	0
SACS	26278	broad.mit.edu	37	13	23913373	23913373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:23913373C>A	ENST00000382298.3	-	10	5230	c.4642G>T	c.(4642-4644)Gga>Tga	p.G1548*	SACS_ENST00000402364.1_Nonsense_Mutation_p.G798*|SACS_ENST00000382292.3_Nonsense_Mutation_p.G1548*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1548					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAACTTCTCCCCTTTTTAAA	0.368000													15	42					1.5739e-10	2.27493e-10	0.004007	1	0
ANXA5	308	broad.mit.edu	37	4	122607458	122607458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:122607458C>A	ENST00000296511.5	-	3	364	c.79G>T	c.(79-81)Gct>Tct	p.A27S	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Missense_Mutation_p.A27S|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	27					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CCTTTCATAGCCTTCCGAAGA	0.373000													24	43					4.87955e-14	7.69111e-14	0.005443	1	0
UBASH3B	84959	broad.mit.edu	37	11	122680461	122680461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:122680461C>T	ENST00000284273.5	+	14	2192	c.1817C>T	c.(1816-1818)cCa>cTa	p.P606L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	606	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTTCAGATCCCATATCTGGGA	0.413000													15	26					0	0	0.002450	0	0
IMMP2L	83943	broad.mit.edu	37	7	111127317	111127317	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:111127317G>T	ENST00000405709.2	-	3	658	c.216C>A	c.(214-216)caC>caA	p.H72Q	IMMP2L_ENST00000452895.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000447215.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000437687.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000415362.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000331762.3_Missense_Mutation_p.H72Q	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	72					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGTCACCACGGTGTACTTCAA	0.368000													38	46					2.47872e-24	4.44693e-24	0.002522	1	0
BEND5	79656	broad.mit.edu	37	1	49224778	49224778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:49224778C>A	ENST00000371833.3	-	3	625	c.539G>T	c.(538-540)cGg>cTg	p.R180L	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	180										large_intestine(5)|lung(2)|skin(1)	8						ATACAGAGCCCGGGGCACCAC	0.622000													25	44					3.08376e-08	4.16623e-08	0.003330	1	0
BMP6	654	broad.mit.edu	37	6	7862567	7862567	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:7862567T>G	ENST00000283147.6	+	4	1199	c.1040T>G	c.(1039-1041)gTg>gGg	p.V347G		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	347					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCAGGCCTGGTGGGCAGAGAC	0.557000													22	83					0	0	0.003330	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913188	143913188	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:143913188C>A	ENST00000409869.1	+	3	306	c.129C>A	c.(127-129)tcC>tcA	p.S43S	ARHGAP15_ENST00000295095.6_Silent_p.S43S			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	43					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGTAAATCCATGATCCTCA	0.443000													18	32					1.64113e-05	1.98616e-05	0.001523	1	0
HERC2	8924	broad.mit.edu	37	15	28508211	28508211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:28508211C>G	ENST00000261609.7	-	15	2083	c.1975G>C	c.(1975-1977)Gtg>Ctg	p.V659L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	659					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTTGACCACATCCAAGTCT	0.473000													11	51					0	0	0.001368	0	0
CERKL	375298	broad.mit.edu	37	2	182413579	182413579	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:182413579C>G	ENST00000410087.3	-	7	1001	c.901G>C	c.(901-903)Gta>Cta	p.V301L	CERKL_ENST00000339098.5_Missense_Mutation_p.V327L|CERKL_ENST00000374970.2_Missense_Mutation_p.V232L|CERKL_ENST00000374969.2_Missense_Mutation_p.V188L|CERKL_ENST00000409440.3_Missense_Mutation_p.V283L|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	327	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACCAGCTGTACATGCCCTTGA	0.433000													13	41					0	0	0.002450	0	0
FOXD4	2298	broad.mit.edu	37	9	118065	118065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:118065C>A	ENST00000382500.2	-	1	352	c.55G>T	c.(55-57)Gac>Tac	p.D19Y		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	19					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCATCGGAGTCCCGGAGGCTG	0.627000													37	61					8.48111e-28	1.54669e-27	0.003610	1	0
GJA10	84694	broad.mit.edu	37	6	90605647	90605647	+	Missense_Mutation	SNP	C	C	G	rs150458704		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:90605647C>G	ENST00000369352.1	+	1	1460	c.1460C>G	c.(1459-1461)cCg>cGg	p.P487R		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	487					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGCCCTACCGATCATGGAA	0.473000													35	96					0	0	0.005524	0	0
LRP2	4036	broad.mit.edu	37	2	169996113	169996113	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:169996113T>C	ENST00000263816.3	-	73	13492	c.13207A>G	c.(13207-13209)Agc>Ggc	p.S4403G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4403	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTAGCCGCTAGGACACCTG	0.398000													25	102					0	0	0.003330	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071069	102071069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:102071069G>T	ENST00000549145.1	+	27	3124	c.3024G>T	c.(3022-3024)ttG>ttT	p.L1008F	MYBPC1_ENST00000452455.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L964F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L958F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L977F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L977F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L965F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L878F|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L951F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L963F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	995	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTACTGAATTGGTCATAGGGA	0.408000													28	57					7.38237e-10	1.04874e-09	0.006320	1	0
FOXN2	3344	broad.mit.edu	37	2	48573727	48573727	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:48573727T>C	ENST00000340553.3	+	3	635	c.374T>C	c.(373-375)aTt>aCt	p.I125T		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	125					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TATATGGCCATTGAGCACTCT	0.418000													8	182					0	0	0.004482	0	0
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:73649905G>A	ENST00000377687.4	+	4	1791	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KLF5_ENST00000539231.1_Missense_Mutation_p.E328K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592000													14	50					0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108443477	108443477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:108443477G>A	ENST00000408999.3	+	1	85	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.C3Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	3					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCGATGAGTTGCAGCAAGGCC	0.652000													6	12					0	0	0.001984	0	0
TRIM68	55128	broad.mit.edu	37	11	4621864	4621864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:4621864C>T	ENST00000300747.5	-	7	1389	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	367	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCACTCAGACCTGTCTCCCAC	0.537000													9	43					0	0	0.006214	0	0
BRCA1	672	broad.mit.edu	37	17	41209101	41209101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:41209101G>A	ENST00000309486.4	-	18	5384	c.4357C>T	c.(4357-4359)Cca>Tca	p.P1453S	BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1749				Missing (in Ref. 3; AAC00049).	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGCTTTGGACCTTGGTGG	0.463000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			40	242					0	0	0.002222	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208796	140208796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:140208796G>T	ENST00000529310.1	+	1	1234	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V374L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|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)			CCTAATTAGCGTGAACGACCT	0.488000													55	68					7.07328e-35	1.30796e-34	0.003610	1	0
TNRC18	84629	broad.mit.edu	37	7	5410791	5410791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:5410791C>A	ENST00000399537.4	-	11	3782	c.3434G>T	c.(3433-3435)cGg>cTg	p.R1145L	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1145L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1145	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGCCCTCCCGCAGCGGCTC	0.687000													15	15					6.31663e-08	8.3968e-08	0.003163	1	0
PSMB10	5699	broad.mit.edu	37	16	67969891	67969891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:67969891G>T	ENST00000358514.4	-	4	695	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CGCAGGATGCGAGTGACCGTG	0.662000													17	17					7.05477e-17	1.17343e-16	0.004990	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812784	31812784	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:31812784C>A	ENST00000334067.3	+	1	188	c.139C>A	c.(139-141)Ctc>Atc	p.L47I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	47						intermediate filament		p.L47I(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGGCTCCTCTCTCTACAATGG	0.483000													41	83					2.95478e-19	5.02844e-19	0.008740	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237414	140237414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:140237414G>T	ENST00000307360.5	+	1	1781	c.1781G>T	c.(1780-1782)cGc>cTc	p.R594L	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAAGGTGCGCGCAGTGGAC	0.672000													5	30					8.12818e-05	9.60868e-05	0.001984	1	0
TSIX	9383	broad.mit.edu	37	X	73044698	73044698	+	RNA	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:73044698C>A	ENST00000604411.1	+	0	32659				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATATATCATTCCTTACATCTG	0.308000													12	43					6.40141e-05	7.59451e-05	0.000978	1	0
NOS2	4843	broad.mit.edu	37	17	26109099	26109099	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:26109099C>T	ENST00000313735.6	-	7	897	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	222					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCAAACATTTCCCGGGCAGTG	0.557000													11	40					0	0	0.000978	0	0
TAF1L	138474	broad.mit.edu	37	9	32635171	32635171	+	Nonsense_Mutation	SNP	G	G	T	rs139816850	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:32635171G>T	ENST00000242310.4	-	1	496	c.407C>A	c.(406-408)tCg>tAg	p.S136*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	136					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCATAATCCGAGTGGTAAAG	0.478000													40	106					7.63091e-17	1.26608e-16	0.007835	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925561	45925561	+	Silent	SNP	C	C	T	rs144563506	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:45925561C>T	ENST00000395629.2	+	7	1815	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	MAPK8IP1_ENST00000241014.2_Silent_p.D505D			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	505	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GACACGAAGACGAACTTGAGC	0.592000													20	95					0	0	0.008871	0	0
RBM44	375316	broad.mit.edu	37	2	238742712	238742712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:238742712C>A	ENST00000316997.4	+	14	3094	c.2962C>A	c.(2962-2964)Cca>Aca	p.P988T	RBM44_ENST00000409864.1_Missense_Mutation_p.P988T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	987							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTCATACCTCCAAATACATT	0.338000													8	11					3.09899e-07	3.97583e-07	0.004482	1	0
CNTN1	1272	broad.mit.edu	37	12	41365291	41365291	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:41365291T>C	ENST00000547849.1	+	16	2179	c.1860T>C	c.(1858-1860)tgT>tgC	p.C620C	CNTN1_ENST00000547702.1_Silent_p.C620C|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Silent_p.C620C|CNTN1_ENST00000347616.1_Intron	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN	contactin 1	0	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCCCCGTCTGTGCAAGCCTGC	0.418000													6	35					0	0	0.001168	0	0
OR7A5	26659	broad.mit.edu	37	19	14938756	14938756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:14938756G>T	ENST00000322301.3	-	2	385	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.Q100K			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AAATACATCTGCATGAGGCAG	0.453000													22	102					3.8784e-16	6.30836e-16	0.001882	1	0
KIF21B	23046	broad.mit.edu	37	1	200961498	200961498	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:200961498A>T	ENST00000332129.2	-	16	2613	c.2297T>A	c.(2296-2298)aTg>aAg	p.M766K	KIF21B_ENST00000461742.2_Missense_Mutation_p.M766K|KIF21B_ENST00000422435.2_Missense_Mutation_p.M766K|KIF21B_ENST00000360529.5_Missense_Mutation_p.M766K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	766					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCACGCATCTGCTTCAT	0.642000													20	74					0	0	0.004656	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	54					0	0	0.000602	0	0
TLR7	51284	broad.mit.edu	37	X	12904321	12904321	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:12904321C>G	ENST00000380659.3	+	3	833	c.694C>G	c.(694-696)Ctc>Gtc	p.L232V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.L232I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGAACTATATCTCTACAACAA	0.358000													12	50					0	0	0.001368	0	0
DEPTOR	64798	broad.mit.edu	37	8	121021283	121021283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:121021283G>T	ENST00000286234.5	+	8	1142	c.1012G>T	c.(1012-1014)Gtt>Ttt	p.V338F	DEPTOR_ENST00000523492.1_Missense_Mutation_p.V237F|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	338	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TGGTGACGCGGTTGGCTGGGG	0.547000													7	45					0.000274275	0.00031743	0.004482	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358197	99358197	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:99358197G>A	ENST00000408927.3	+	14	1787	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	RAP1GDS1_ENST00000264572.7_Silent_p.L467L|RAP1GDS1_ENST00000453712.2_Silent_p.L558L|RAP1GDS1_ENST00000339360.5_Silent_p.L559L|RAP1GDS1_ENST00000380158.4_Silent_p.L510L|RAP1GDS1_ENST00000408900.3_Silent_p.L509L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	558							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CCATGGTCCTGATATGTGCTC	0.323000			T	NUP98	T-ALL								5	25					0	0	0.000602	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957747	152957747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:152957747C>A	ENST00000307122.2	+	2	105	c.41C>A	c.(40-42)cCt>cAt	p.P14H	SPRR1A_ENST00000368762.1_Missense_Mutation_p.P14H	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	14	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCACCCCCTCAGCCTCAG	0.522000													45	120					5.2432e-18	8.83206e-18	0.003610	1	0
PRMT10	90826	broad.mit.edu	37	4	148575513	148575513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:148575513T>A	ENST00000322396.6	-	9	1777	c.1535A>T	c.(1534-1536)gAt>gTt	p.D512V	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.D399V	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	512						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CTCTACAGCATCTGGTTTACT	0.383000													26	46					0	0	0.004656	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160787	58160787	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:58160787T>C	ENST00000228606.4	-	1	247	c.38A>G	c.(37-39)cAt>cGt	p.H13R	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	13					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGGACGCGATGGAACACTCT	0.617000													24	132					0	0	0.003954	0	0
HEPH	9843	broad.mit.edu	37	X	65427105	65427105	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:65427105G>C	ENST00000519389.1	+	14	2701	c.2522G>C	c.(2521-2523)aGg>aCg	p.R841T	HEPH_ENST00000419594.1_Missense_Mutation_p.R598T|HEPH_ENST00000441993.2_Missense_Mutation_p.R790T|HEPH_ENST00000374727.3_Missense_Mutation_p.R790T|HEPH_ENST00000336279.5_Missense_Mutation_p.R520T|HEPH_ENST00000343002.2_Missense_Mutation_p.R787T			Q9BQS7	HEPH_HUMAN	hephaestin	787	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTGTATTCAGGGAATACACT	0.463000													22	51					0	0	0.002299	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035126	107035126	+	RNA	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:107035126C>G	ENST00000390626.2	-	0	95																											CCTTGGAGAACAGCCAGGAGG	0.577000													7	7					0	0	0.003080	0	0
ZNF195	7748	broad.mit.edu	37	11	3381280	3381280	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:3381280T>A	ENST00000354599.6	-	4	846	c.742A>T	c.(742-744)Att>Ttt	p.I248F	ZNF195_ENST00000343338.7_Missense_Mutation_p.I252F|ZNF195_ENST00000526601.1_Missense_Mutation_p.I301F|ZNF195_ENST00000005082.9_Missense_Mutation_p.I297F|ZNF195_ENST00000429541.2_Missense_Mutation_p.I252F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.I320F	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCGGCATAAATTCTATTTTTA	0.393000													19	105					0	0	0.006122	0	0
OR6K2	81448	broad.mit.edu	37	1	158669868	158669868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:158669868C>A	ENST00000359610.2	-	1	618	c.575G>T	c.(574-576)cGa>cTa	p.R192L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GACGATGGCTCGTGTGTCTGT	0.473000													28	70					7.41945e-09	1.02327e-08	0.005443	1	0
FGD1	2245	broad.mit.edu	37	X	54482964	54482964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:54482964G>A	ENST00000375135.3	-	9	2406	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	558	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCAGCATTCGAGTGCTCTGC	0.602000													4	46					0	0	0.001168	0	0
RASA3	22821	broad.mit.edu	37	13	114748770	114748770	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:114748770A>T	ENST00000334062.7	-	24	2614	c.2493T>A	c.(2491-2493)acT>acA	p.T831T	RASA3_ENST00000389544.4_Silent_p.T799T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	831					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAATGGAATGAGTGGAGGTCT	0.592000													24	59					0	0	0.002836	0	0
LILRB3	11025	broad.mit.edu	37	19	54721011	54721011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:54721011C>T	ENST00000391750.1	-	14	1983	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.G616E|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.G616E|LILRA6_ENST00000419410.2_Missense_Mutation_p.G617E|LILRB3_ENST00000245620.9_Missense_Mutation_p.G617E|LILRA6_ENST00000270464.5_Missense_Mutation_p.G617E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G628E|LILRB3_ENST00000407860.2_Missense_Mutation_p.G633E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	616					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGTTCCCCTTCCTGGGA	0.617000													11	63					0	0	0.008291	0	0
ZHX2	22882	broad.mit.edu	37	8	123965171	123965171	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:123965171A>C	ENST00000314393.4	+	3	2256	c.1421A>C	c.(1420-1422)gAg>gCg	p.E474A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGCTCATCGAGGTGACTGGC	0.562000													4	44					0	0	0.000248	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844441	12844441	+	Splice_Site	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:12844441G>T	ENST00000379672.5	+	8	951	c.651_splice	c.e8+1	p.T217_splice	ARHGAP44_ENST00000340825.3_Splice_Site_p.T217_splice|ARHGAP44_ENST00000262444.9_Splice_Site_p.T217_splice	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	217	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTTTCAAACGGTAAGTGCCC	0.403000													22	29					2.21704e-12	3.32807e-12	0.002780	1	0
DNAH7	56171	broad.mit.edu	37	2	196729424	196729424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:196729424C>A	ENST00000312428.6	-	41	7055	c.6955G>T	c.(6955-6957)Gcc>Tcc	p.A2319S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2319	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCTCTATGGCAAATCGAAAC	0.448000													26	88					1.64293e-13	2.55911e-13	0.003330	1	0
CLK4	57396	broad.mit.edu	37	5	178050304	178050304	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:178050304T>C	ENST00000316308.4	-	2	282	c.114A>G	c.(112-114)caA>caG	p.Q38Q	CLK4_ENST00000520957.1_Silent_p.Q38Q	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	38						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GCCTGTTCTCTTGTGTGCTAC	0.388000													12	71					0	0	0.002450	0	0
CCKBR	887	broad.mit.edu	37	11	6292657	6292657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:6292657C>A	ENST00000525462.1	+	4	1438	c.1435C>A	c.(1435-1437)Ccc>Acc	p.P479T	CCKBR_ENST00000532715.1_Missense_Mutation_p.P326T|CCKBR_ENST00000334619.2_Missense_Mutation_p.P410T			P32239	GASR_HUMAN	cholecystokinin B receptor	410					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCGCTGCTGCCCCCGGCCTCC	0.642000													12	75					1.08611e-07	1.42943e-07	0.000978	1	0
ASTL	431705	broad.mit.edu	37	2	96789754	96789754	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:96789754A>G	ENST00000342380.2	-	9	1130	c.1131T>C	c.(1129-1131)ggT>ggC	p.G377G		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	377					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACCGGGGGCACCTGCTCCAG	0.627000													18	86					0	0	0.004990	0	0
ERCC5	2073	broad.mit.edu	37	13	103527858	103527858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:103527858C>T	ENST00000355739.4	+	15	4589	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	ERCC5_ENST00000375954.1_Nonsense_Mutation_p.Q289*|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAAAAACCCAGAAGAGAGG	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	103					0	0	0.003330	0	0
IL21R	50615	broad.mit.edu	37	16	27460293	27460293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:27460293C>A	ENST00000337929.3	+	9	1779	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	IL21R_ENST00000395754.4_Missense_Mutation_p.P436T|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.P436T|IL21R_ENST00000564089.1_Missense_Mutation_p.P436T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	436					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGGCAGCCCTGGGCTAGG	0.672000			T	BCL6	NHL								28	61					1.75199e-13	2.70985e-13	0.007291	1	0
ALS2	57679	broad.mit.edu	37	2	202611466	202611466	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:202611466G>A	ENST00000264276.6	-	9	2193	c.1821C>T	c.(1819-1821)agC>agT	p.S607S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	607					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATTTTCACTGCTTATCTGCA	0.443000													22	119					0	0	0.002299	0	0
HCN1	348980	broad.mit.edu	37	5	45262862	45262862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:45262862C>A	ENST00000303230.4	-	8	1891	c.1834G>T	c.(1834-1836)Ggt>Tgt	p.G612C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	612						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						TTGAAAACACCAGTGTTCAGA	0.413000													11	50					2.80697e-09	3.92858e-09	0.000978	1	0
LRP1B	53353	broad.mit.edu	37	2	141114000	141114000	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:141114000T>A	ENST00000389484.3	-	75	12412	c.11441A>T	c.(11440-11442)gAt>gTt	p.D3814V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3814	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATGCATCATCTCCACATGG	0.338000										TSP Lung(27;0.18)			24	55					0	0	0.002780	0	0
DCDC1	341019	broad.mit.edu	37	11	30942330	30942330	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:30942330C>G	ENST00000597505.1	-	23	3285	c.3286G>C	c.(3286-3288)Gaa>Caa	p.E1096Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E175Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACAGAATTTCACTGGAAGCA	0.438000													12	27					0	0	0.001855	0	0
INTU	27152	broad.mit.edu	37	4	128577843	128577843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:128577843G>T	ENST00000335251.5	+	3	838	c.735G>T	c.(733-735)gaG>gaT	p.E245D	INTU_ENST00000296461.5_Missense_Mutation_p.E245D	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	245	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAACATCGAGAGAGTTCTGT	0.313000													14	31					1.99824e-07	2.59888e-07	0.004990	1	0
MUC16	94025	broad.mit.edu	37	19	9014562	9014562	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:9014562T>A	ENST00000397910.4	-	31	38616	c.38413A>T	c.(38413-38415)Acc>Tcc	p.T12805S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12807	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CTGTCCAGGGTGTAGGGACCC	0.557000													93	136					0	0	0.003610	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35940505	35940505	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:35940505T>C	ENST00000325722.3	-	5	1150	c.916A>G	c.(916-918)Ata>Gta	p.I306V		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	306						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTCCTTTATAACTGGAAAC	0.363000													5	53					0	0	0.000602	0	0
NLRP3	114548	broad.mit.edu	37	1	247588839	247588839	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:247588839C>A	ENST00000366497.2	+	4	2874	c.2094C>A	c.(2092-2094)ggC>ggA	p.G698G	NLRP3_ENST00000348069.2_Silent_p.G698G|NLRP3_ENST00000391828.3_Silent_p.G698G|NLRP3_ENST00000366496.2_Silent_p.G698G|NLRP3_ENST00000336119.3_Silent_p.G698G|NLRP3_ENST00000391827.2_Silent_p.G698G|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	698					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAAGGAAGGCCGACACCTTG	0.527000													8	37					0.000442599	0.000509567	0.006214	1	0
TGM7	116179	broad.mit.edu	37	15	43568737	43568737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:43568737C>A	ENST00000452443.2	-	13	2053	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	683					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAACCTGGAGCTGGCGGGGTC	0.582000													30	99					1.45844e-13	2.27709e-13	0.002836	1	0
SV2A	9900	broad.mit.edu	37	1	149877572	149877572	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:149877572G>A	ENST00000369146.3	-	12	2395	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	SV2A_ENST00000369145.1_Silent_p.S635S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	635					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGAGACACAGGACATCACGC	0.592000													12	49					0	0	0.001368	0	0
MCAM	4162	broad.mit.edu	37	11	119182596	119182596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:119182596C>T	ENST00000392814.1	-	5	1783	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	MCAM_ENST00000264036.4_Missense_Mutation_p.G403S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	403	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGATAGCCGCCTCCTGCCTCC	0.617000													51	75					0	0	0.003610	0	0
OR10G8	219869	broad.mit.edu	37	11	123901174	123901174	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:123901174T>C	ENST00000431524.1	+	1	878	c.845T>C	c.(844-846)cTc>cCc	p.L282P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACGCCCCTTCTCAACCCTGTT	0.498000													17	95					0	0	0.006122	0	0
EDAR	10913	broad.mit.edu	37	2	109524389	109524389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:109524389G>A	ENST00000409271.1	-	10	1429	c.986C>T	c.(985-987)tCc>tTc	p.S329F	EDAR_ENST00000258443.2_Missense_Mutation_p.S297F|EDAR_ENST00000376651.1_Missense_Mutation_p.S329F			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	297					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAGCTCCGGGGAGCCCTGCTT	0.617000													7	66					0	0	0.001984	0	0
NUP188	23511	broad.mit.edu	37	9	131750354	131750354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:131750354C>T	ENST00000372577.2	+	24	2443	c.2422C>T	c.(2422-2424)Cag>Tag	p.Q808*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	808					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGGGCAGGGCCAGCTGCTGAT	0.502000													37	138					0	0	0.005524	0	0
TIAM1	7074	broad.mit.edu	37	21	32638519	32638519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:32638519C>G	ENST00000286827.3	-	5	1241	c.770G>C	c.(769-771)tGt>tCt	p.C257S	TIAM1_ENST00000541036.1_Missense_Mutation_p.C257S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	257					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAATTCCGACAGTAGCCTGC	0.493000													39	77					0	0	0.008740	0	0
SCN5A	6331	broad.mit.edu	37	3	38645303	38645303	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:38645303C>G	ENST00000413689.1	-	12	1983	c.1790G>C	c.(1789-1791)tGc>tCc	p.C597S	SCN5A_ENST00000455624.2_Missense_Mutation_p.C597S|SCN5A_ENST00000451551.2_Missense_Mutation_p.C597S|SCN5A_ENST00000450102.2_Missense_Mutation_p.C597S|SCN5A_ENST00000449557.2_Missense_Mutation_p.C597S|SCN5A_ENST00000443581.1_Missense_Mutation_p.C597S|SCN5A_ENST00000425664.1_Missense_Mutation_p.C597S|SCN5A_ENST00000423572.2_Missense_Mutation_p.C597S|SCN5A_ENST00000414099.2_Missense_Mutation_p.C597S|SCN5A_ENST00000333535.4_Missense_Mutation_p.C597S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	597					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACCCCATTGCAGTCCACAGT	0.667000													31	127					0	0	0.002096	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328949	42328949	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:42328949G>C	ENST00000262418.6	-	18	2474	c.2319C>G	c.(2317-2319)tcC>tcG	p.S773S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	773	Membrane (anion exchange).		S -> P (in AR-dRTA; with normal red cell morphology).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATGAGGATGGACAGGCCTG	0.627000													11	34					0	0	0.000978	0	0
AFF3	3899	broad.mit.edu	37	2	100210239	100210239	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:100210239C>T	ENST00000317233.4	-	14	2119	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	AFF3_ENST00000409579.1_Silent_p.R653R|AFF3_ENST00000409236.1_Silent_p.R628R|AFF3_ENST00000356421.2_Silent_p.R653R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	628					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCCACAGGGCCTGGTTTTGG	0.721000													22	48					0	0	0.003330	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668324	160668324	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:160668324T>A	ENST00000366952.1	-	7	2267	c.786A>T	c.(784-786)atA>atT	p.I262I	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.I283I			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	283					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGACTCAGGTATGCACCTAG	0.448000													6	61					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28420692	28420692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:28420692G>A	ENST00000261609.7	-	64	9905	c.9797C>T	c.(9796-9798)gCc>gTc	p.A3266V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3266					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGTGCAGGGCCCCGACAGC	0.642000													7	17					0	0	0.001984	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765838	27765838	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:27765838C>A	ENST00000451261.2	+	5	1225	c.826C>A	c.(826-828)Cag>Aag	p.Q276K		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TAATGTCTTCCAGGCCAAGTT	0.498000													10	14					1.76689e-08	2.40676e-08	0.006214	1	0
PUS7L	83448	broad.mit.edu	37	12	44124184	44124184	+	Missense_Mutation	SNP	C	C	A	rs142156360		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:44124184C>A	ENST00000416848.2	-	9	2589	c.2101G>T	c.(2101-2103)Gtt>Ttt	p.V701F	PUS7L_ENST00000551923.1_Missense_Mutation_p.V701F|PUS7L_ENST00000344862.5_Missense_Mutation_p.V701F|PUS7L_ENST00000431332.3_Missense_Mutation_p.V388F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	701					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CAGTTTTAAACGTCATGCTTC	0.373000													13	16					5.50884e-06	6.76596e-06	0.001368	1	0
ITGA9	3680	broad.mit.edu	37	3	37536030	37536030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:37536030C>T	ENST00000264741.5	+	5	839	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q195*	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	195					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CGGCTCCTGCCAGGCTGGGAT	0.517000													11	27					0	0	0.000978	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348293	30348293	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:30348293G>T	ENST00000327564.7	+	1	270	c.209G>T	c.(208-210)gGg>gTg	p.G70V	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G43V|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G43V|LRRC37B_ENST00000584368.1_Missense_Mutation_p.G55V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	43						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACCCCCTGGGGCCACCTGAG	0.622000													25	117					4.26978e-12	6.38057e-12	0.003330	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19560137	19560137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:19560137C>A	ENST00000397821.3	-	16	2088	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.E563*|SH3KBP1_ENST00000541422.1_Nonsense_Mutation_p.E339*|SH3KBP1_ENST00000379716.1_Nonsense_Mutation_p.E362*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	600					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCCGCAGGCTCCATCTTTGGT	0.617000													15	127					3.35478e-16	5.4701e-16	0.003163	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608884	84608884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:84608884G>A	ENST00000344803.2	+	4	3546	c.3499G>A	c.(3499-3501)Gga>Aga	p.G1167R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGCAAGTCAGGAAGCTGCTC	0.413000													7	28					0	0	0.001984	0	0
ENPEP	2028	broad.mit.edu	37	4	111474593	111474593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:111474593G>T	ENST00000265162.5	+	18	2966	c.2624G>T	c.(2623-2625)tGg>tTg	p.W875L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	875					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAACTCAACTGGGACTATCTA	0.398000													38	68					3.43241e-23	6.07556e-23	0.002222	1	0
OR4A47	403253	broad.mit.edu	37	11	48510913	48510913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:48510913C>A	ENST00000446524.1	+	1	645	c.569C>A	c.(568-570)aCc>aAc	p.T190N		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGCACTGACACCCATGCTATT	0.438000													28	107					3.73148e-12	5.58877e-12	0.007291	1	0
QTRT1	81890	broad.mit.edu	37	19	10823446	10823446	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:10823446G>C	ENST00000250237.5	+	8	884	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	292					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTTGGCTCTGCCCTGGTGCC	0.622000													29	114					0	0	0.004878	0	0
KDR	3791	broad.mit.edu	37	4	55972944	55972944	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:55972944A>T	ENST00000263923.4	-	11	1741	c.1446T>A	c.(1444-1446)tgT>tgA	p.C482*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	482	Ig-like C2-type 5.		C -> R (in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced and KDR activity is increased compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation predicts to result in loss-of-function and disruption of the normal association of these molecules; dbSNP:rs34231037).		angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTCTTCACAAGGGTATG	0.338000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	42					0	0	0.001168	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356475	140356475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:140356475C>A	ENST00000406427.1	-	32	4000	c.3664G>T	c.(3664-3666)Ggg>Tgg	p.G1222W	PNPLA7_ENST00000277531.4_Missense_Mutation_p.G1197W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G803W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1197					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACCGTGCGCCCGTGCTGGTAG	0.672000													7	10					5.18039e-06	6.39817e-06	0.003080	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44260100	44260100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:44260100C>A	ENST00000315087.7	-	7	1696	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382C|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCGTGGAAGCCGGGACGCGGC	0.607000													30	47					2.47511e-08	3.35762e-08	0.008361	1	0
SGIP1	84251	broad.mit.edu	37	1	67195021	67195021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:67195021C>A	ENST00000371037.4	+	20	1894	c.1817C>A	c.(1816-1818)cCg>cAg	p.P606Q	SGIP1_ENST00000371035.3_Missense_Mutation_p.P396Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.P408Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P409Q|SGIP1_ENST00000435165.2_Missense_Mutation_p.P111Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P637Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	606					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCCAACAACCCGTCCCCAGCT	0.453000													36	92					4.11147e-13	6.2859e-13	0.003755	1	0
SPTBN5	51332	broad.mit.edu	37	15	42143102	42143102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:42143102G>T	ENST00000320955.6	-	66	11098	c.10871C>A	c.(10870-10872)cCg>cAg	p.P3624Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH.				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)		CTCTTCGGACGGTGCTGCAAA	0.682000													3	6					0.000602214	0.000690929	0.000602	1	0
SLC25A36	55186	broad.mit.edu	37	3	140692765	140692765	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:140692765G>T	ENST00000446041.2	+	6	885	c.660G>T	c.(658-660)gtG>gtT	p.V220V	SLC25A36_ENST00000453248.2_Silent_p.V194V|SLC25A36_ENST00000324194.6_Silent_p.V220V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	220					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAGAGTCTGTGAAAGAAGCAT	0.348000													14	18					4.3838e-07	5.6133e-07	0.001855	1	0
CECR1	51816	broad.mit.edu	37	22	17684454	17684454	+	Splice_Site	SNP	G	G	C	rs148936893		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:17684454G>C	ENST00000399839.1	-	4	1022	c.753_splice	c.e4+1	p.P251_splice	CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	251					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGCTCACCGGCAGCAGCCT	0.532000													8	28					0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28437249	28437249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:28437249C>A	ENST00000261609.7	-	53	8417	c.8309G>T	c.(8308-8310)tGc>tTc	p.C2770F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2770	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGCTGTGGCAACGCTTCAG	0.527000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	137					1.61788e-16	2.65766e-16	0.002445	1	0
NOP56	10528	broad.mit.edu	37	20	2637485	2637485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr20:2637485G>C	ENST00000329276.5	+	10	1741	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	409	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GTCCTTCTATGAGACTGGAGA	0.512000													15	64					0	0	0.002450	0	0
C7	730	broad.mit.edu	37	5	40945382	40945382	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:40945382C>T	ENST00000313164.9	+	7	1009	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	217	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAACACACATCATCTAGTCGG	0.303000													5	29					0	0	0.000602	0	0
GPR31	2853	broad.mit.edu	37	6	167570401	167570401	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:167570401C>G	ENST00000366834.1	-	1	1416	c.919G>C	c.(919-921)Gca>Cca	p.A307P		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	307						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGGCTCTGCTGCCTGCCCT	0.557000													4	48					0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13885257	13885257	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:13885257T>A	ENST00000265104.4	-	19	2928	c.2824A>T	c.(2824-2826)Acg>Tcg	p.T942S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	942	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTTTCCTCGTGACTGTCGTC	0.418000									Kartagener syndrome				23	53					0	0	0.002780	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501930	90501930	+	Missense_Mutation	SNP	G	G	T	rs140371966		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:90501930G>T	ENST00000325643.5	+	4	2594	c.2528G>T	c.(2527-2529)tGt>tTt	p.C843F		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTAAGGTTCTGTGTGAGGCAC	0.577000													12	32					2.27111e-07	2.94222e-07	0.001368	1	0
GPR162	27239	broad.mit.edu	37	12	6933684	6933684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:6933684G>T	ENST00000311268.3	+	2	1407	c.620G>T	c.(619-621)tGg>tTg	p.W207L	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGACACTGTGGGCCCGGCCC	0.652000													14	77					2.61681e-11	3.84962e-11	0.002450	1	0
AMPD1	270	broad.mit.edu	37	1	115220608	115220608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:115220608C>A	ENST00000369538.3	-	8	1281	c.1234G>T	c.(1234-1236)Gga>Tga	p.G412*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.G383*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.G416*	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	383					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACTTGCTCCTACAGGATTA	0.423000													19	46					0.00074312	0.000849647	0.006122	1	0
F8	2157	broad.mit.edu	37	X	154197711	154197711	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:154197711G>T	ENST00000360256.4	-	7	1104	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	302	F5/8 type A 1.|Plastocyanin-like 2.		Missing (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGACGCCTGGCGATGGTTC	0.458000													51	129					1.21353e-23	2.15957e-23	0.003610	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:52733173C>G	ENST00000360540.5	-	7	1218	c.812G>C	c.(811-813)aGg>aCg	p.R271T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423000													6	169					0	0	0.001984	0	0
DMWD	1762	broad.mit.edu	37	19	46289893	46289893	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:46289893G>C	ENST00000270223.6	-	3	906	c.861C>G	c.(859-861)ctC>ctG	p.L287L	DMWD_ENST00000377735.3_Silent_p.L287L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	287					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGAACTCGTTGAGGGGCCCCT	0.667000													4	35					0	0	0.000248	0	0
FLCN	201163	broad.mit.edu	37	17	17117142	17117142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:17117142T>A	ENST00000285071.4	-	14	2021	c.1567A>T	c.(1567-1569)Aag>Tag	p.K523*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	523					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGTCCACCTTGGTGAACTTA	0.522000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				33	93					0	0	0.003271	0	0
IRX1	79192	broad.mit.edu	37	5	3599534	3599534	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:3599534G>A	ENST00000302006.3	+	2	524	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	158						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						CCCCACCAAGGGCGAGAAGAT	0.637000													15	94					0	0	0.004990	0	0
MICAL3	57553	broad.mit.edu	37	22	18384718	18384718	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:18384718G>A	ENST00000441493.2	-	5	969	c.617C>T	c.(616-618)cCc>cTc	p.P206L	MICAL3_ENST00000429452.1_Missense_Mutation_p.P206L|MICAL3_ENST00000585038.1_Missense_Mutation_p.P206L|MICAL3_ENST00000400561.2_Missense_Mutation_p.P206L|MICAL3_ENST00000207726.7_Missense_Mutation_p.P206L|MICAL3_ENST00000414725.2_Missense_Mutation_p.P206L|MICAL3_ENST00000444520.1_Missense_Mutation_p.P206L|MICAL3_ENST00000383094.3_Missense_Mutation_p.P206L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATGAGTCTTGGGGTGCACCAG	0.532000													5	30					0	0	0.001168	0	0
FOXM1	2305	broad.mit.edu	37	12	2968029	2968029	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:2968029A>G	ENST00000342628.2	-	10	2294	c.2181T>C	c.(2179-2181)ttT>ttC	p.F727F	FOXM1_ENST00000361953.3_Silent_p.F674F|FOXM1_ENST00000359843.3_Silent_p.F689F|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	689					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAGAGTTGCCAAAGGGGACGG	0.567000													8	60					0	0	0.003080	0	0
TOR1B	27348	broad.mit.edu	37	9	132566477	132566477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr9:132566477G>T	ENST00000259339.2	+	2	385	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	109					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TTCCTTACACGGCTGGGCTGG	0.468000													20	77					1.56452e-12	2.3539e-12	0.007413	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890121	23890121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:23890121C>A	ENST00000532292.1	-	1	1054	c.960G>T	c.(958-960)gaG>gaT	p.E320D		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTGGACCTCCCAGTCAC	0.612000													10	59					1.58986e-06	1.98958e-06	0.008291	1	0
FLJ36000	284124	broad.mit.edu	37	17	21909466	21909466	+	RNA	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:21909466G>C	ENST00000581223.2	+	0	191					NR_027084.1																						ATGCCCCACGGTAGCACATTG	0.552000													2	2					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100696667	100696667	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:100696667G>C	ENST00000306151.4	+	11	13377	c.13313G>C	c.(13312-13314)aGt>aCt	p.S4438T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4438						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGAGGACAGTGGACCAGCT	0.463000													24	13					0	0	0.003954	0	0
PML	5371	broad.mit.edu	37	15	74337282	74337282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr15:74337282G>T	ENST00000565898.1	+	8	2522	c.2438G>T	c.(2437-2439)cGg>cTg	p.R813L	PML_ENST00000268058.3_Missense_Mutation_p.R861L			P29590	PML_HUMAN	promyelocytic leukemia	861					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCTGGCACGGGCAGAAGGA	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	66					9.70103e-10	1.37518e-09	0.008291	1	0
KRT34	3885	broad.mit.edu	37	17	39535834	39535834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:39535834C>G	ENST00000394001.1	-	4	894	c.864G>C	c.(862-864)tgG>tgC	p.W288C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	288	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCGTGGCGAACCATTGCTCCA	0.592000													17	127					0	0	0.004990	0	0
LNP1	348801	broad.mit.edu	37	3	100170692	100170692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:100170692G>A	ENST00000383693.3	+	3	1566	c.286G>A	c.(286-288)Gag>Aag	p.E96K	LNP1_ENST00000489752.1_Missense_Mutation_p.E109K	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	96										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTCATTCAAGGAGCCACTGGA	0.448000													14	60					0	0	0.004007	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005197	102005197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:102005197G>T	ENST00000372735.1	+	4	1859	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.G425V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G425V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	425						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCAATCTGGATTAAAGATA	0.388000													22	80					1.28384e-07	1.68297e-07	0.001882	1	0
MXRA5	25878	broad.mit.edu	37	X	3229500	3229500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:3229500C>A	ENST00000217939.6	-	7	6898	c.6744G>T	c.(6742-6744)aaG>aaT	p.K2248N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2248	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTTCTCCTCCTTGTGTTCAA	0.542000													39	74					1.7489e-18	2.96106e-18	0.002852	1	0
SLC9A7	84679	broad.mit.edu	37	X	46508189	46508189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:46508189G>T	ENST00000328306.4	-	11	1416	c.1391C>A	c.(1390-1392)tCc>tAc	p.S464Y		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	464					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAGGAAGAAGGAGAGCGGGTA	0.463000													28	46					9.80776e-20	1.67771e-19	0.006320	1	0
ZNF511	118472	broad.mit.edu	37	10	135165895	135165895	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr10:135165895T>A	ENST00000368554.4	+	8	906	c.884T>A	c.(883-885)gTg>gAg	p.V295E	PRAP1_ENST00000423766.1_Missense_Mutation_p.V137E|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Missense_Mutation_p.V136E|PRAP1_ENST00000458230.1_Missense_Mutation_p.V127E			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AATCACCAGGTGCTCCTGGGA	0.662000													12	66					0	0	0.003163	0	0
ANK2	287	broad.mit.edu	37	4	114274602	114274602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:114274602G>T	ENST00000357077.4	+	38	4881	c.4828G>T	c.(4828-4830)Gaa>Taa	p.E1610*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1577*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1577					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)		AGCACCTTTAGAAATCACTGA	0.403000													26	26					4.72057e-08	6.31317e-08	0.003954	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756459	94756459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:94756459G>T	ENST00000554723.1	-	2	1010	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	SERPINA10_ENST00000554173.1_Missense_Mutation_p.L158M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L158M|SERPINA10_ENST00000393096.1_Missense_Mutation_p.L158M			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	158					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTGAGGCCCAGTTCCAGGTTG	0.522000													29	41					9.65021e-13	1.46524e-12	0.002096	1	0
COL18A1	80781	broad.mit.edu	37	21	46896376	46896376	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:46896376A>T	ENST00000359759.4	+	5	2176	c.2155A>T	c.(2155-2157)Acg>Tcg	p.T719S	COL18A1_ENST00000400337.2_Missense_Mutation_p.T304S|COL18A1_ENST00000355480.5_Missense_Mutation_p.T484S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	719	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGCAGACCACGGTGGCTTC	0.572000													8	10					0	0	0.003080	0	0
MXRA8	54587	broad.mit.edu	37	1	1290644	1290644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:1290644C>A	ENST00000309212.6	-	4	488	c.458G>T	c.(457-459)cGc>cTc	p.R153L	MXRA8_ENST00000342753.4_Missense_Mutation_p.R52L|MXRA8_ENST00000445648.2_Missense_Mutation_p.R153L	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	153	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCTCCAGGCGGACGGCCAG	0.741000													9	23					3.07112e-06	3.81441e-06	0.000978	1	0
CSTF2	1478	broad.mit.edu	37	X	100078902	100078902	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:100078902G>C	ENST00000415585.2	+	5	494	c.472G>C	c.(472-474)Gca>Cca	p.A158P	CSTF2_ENST00000372972.2_Missense_Mutation_p.A158P|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	158	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCCCCAGGAGGCACGGAACAT	0.458000													36	101					0	0	0.003755	0	0
TEX14	56155	broad.mit.edu	37	17	56665328	56665328	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:56665328A>T	ENST00000389934.3	-	16	2748	c.2631T>A	c.(2629-2631)agT>agA	p.S877R	TEX14_ENST00000349033.5_Missense_Mutation_p.S877R|TEX14_ENST00000240361.8_Missense_Mutation_p.S883R	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	883						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGAGTGcactattaaact	0.493000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	56					0	0	0.000978	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319288	130319288	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:130319288C>T	ENST00000299164.2	+	1	420	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCGCTGCCCAATGCTAGCG	0.706000													23	34					0	0	0.002299	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868938	22868938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr22:22868938G>T	ENST00000302097.3	-	2	1269	c.1017C>A	c.(1015-1017)tgC>tgA	p.C339*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGCCGGTGGCAGTGCTGGC	0.458000													32	92					3.93418e-24	7.03899e-24	0.004289	1	0
SETBP1	26040	broad.mit.edu	37	18	42531648	42531648	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:42531648A>G	ENST00000282030.5	+	4	2639	c.2343A>G	c.(2341-2343)acA>acG	p.T781T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	781						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTTTCAACACAGTTAGGTG	0.522000									Schinzel-Giedion syndrome				36	32					0	0	0.004289	0	0
INTU	27152	broad.mit.edu	37	4	128626894	128626894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:128626894G>T	ENST00000335251.5	+	11	1818	c.1715G>T	c.(1714-1716)cGa>cTa	p.R572L	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	572										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CATCACCTCCGACCTTTGGCA	0.448000													46	79					7.05377e-20	1.21288e-19	0.003610	1	0
CUL4A	8451	broad.mit.edu	37	13	113887578	113887578	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:113887578C>T	ENST00000451881.1	+	6	549	c.300C>T	c.(298-300)atC>atT	p.I100I	CUL4A_ENST00000375441.3_Silent_p.I100I|CUL4A_ENST00000326335.4_Silent_p.I100I|CUL4A_ENST00000375440.4_Silent_p.I200I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	200					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TACTGCTGATCGAGCGCGAGA	0.512000													7	64					0	0	0.001984	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879006	12879006	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:12879006A>G	ENST00000524591.2	+	5	1307	c.818A>G	c.(817-819)aAc>aGc	p.N273S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	273							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCTTGAAAAACACAGAAGTT	0.418000													20	52					0	0	0.008871	0	0
M1AP	130951	broad.mit.edu	37	2	74802690	74802690	+	Missense_Mutation	SNP	C	C	T	rs140179344		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:74802690C>T	ENST00000290536.5	-	7	1065	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	M1AP_ENST00000409585.1_Missense_Mutation_p.G317R|M1AP_ENST00000358434.2_Missense_Mutation_p.G35R|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G317R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TCGCAGAGCCCGCTAGATTTT	0.448000													14	103					0	0	0.003163	0	0
GIPC2	54810	broad.mit.edu	37	1	78546513	78546513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:78546513C>A	ENST00000370759.3	+	2	588	c.395C>A	c.(394-396)aCa>aAa	p.T132K	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	132	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CTCACCATTACAGATAATGGT	0.338000													16	39					1.15088e-07	1.51167e-07	0.004007	1	0
ATP1A2	477	broad.mit.edu	37	1	160111106	160111106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:160111106C>A	ENST00000361216.3	+	23	3146	c.3057C>A	c.(3055-3057)taC>taA	p.Y1019*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.Y1008*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1019					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGGAGACATACTACTGACCCC	0.512000													13	55					0.000151284	0.000177571	0.001855	1	0
NR4A2	4929	broad.mit.edu	37	2	157184499	157184499	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:157184499C>T	ENST00000339562.4	-	5	1384	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	NR4A2_ENST00000426264.1_Missense_Mutation_p.R278Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R341Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.R278Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R352Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R341Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	341					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACGACCTCTCCGGCCTTTTAA	0.642000													4	17					0	0	0.000248	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359046	64359046	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:64359046C>G	ENST00000377574.1	+	1	765	c.18C>G	c.(16-18)ctC>ctG	p.L6L	SLC22A12_ENST00000377572.1_Silent_p.L6L|SLC22A12_ENST00000377567.2_Silent_p.L6L|SLC22A12_ENST00000336464.7_Silent_p.L6L|SLC22A12_ENST00000473690.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	6					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTTCTGAACTCCTGGACCTCG	0.592000													29	128					0	0	0.008361	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294720	110294720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:110294720G>C	ENST00000369805.3	-	15	1563	c.1334C>G	c.(1333-1335)tCc>tGc	p.S445C	EPS8L3_ENST00000361965.4_Missense_Mutation_p.S444C|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S414C	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	444						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTTGGGGCTGGAGGGCCTGGA	0.572000													32	210					0	0	0.002836	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912052	101912052	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:101912052C>G	ENST00000537097.1	+	6	4024	c.3211C>G	c.(3211-3213)Ccg>Gcg	p.P1071A	GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1071A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1071A|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1071A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTAGATTTCCGAAAGAGGC	0.512000													104	189					0	0	0.003610	0	0
OR5T2	219464	broad.mit.edu	37	11	55999734	55999734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:55999734C>T	ENST00000313264.4	-	1	1003	c.928G>A	c.(928-930)Gac>Aac	p.D310N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACTATCATGTCATGGTCCGAA	0.398000													22	83					0	0	0.002299	0	0
DCDC1	341019	broad.mit.edu	37	11	31086701	31086701	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:31086701C>A	ENST00000597505.1	-	17	2298		c.e17-1		DCDC1_ENST00000437348.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGGATAAGCCTGTAAGAAAG	0.393000													13	28					0.00185496	0.00210271	0.001855	1	0
BRIP1	83990	broad.mit.edu	37	17	59938841	59938841	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:59938841T>C	ENST00000259008.2	-	2	327	c.60A>G	c.(58-60)aaA>aaG	p.K20K	BRIP1_ENST00000577598.1_Silent_p.K20K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	20	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACGGGTAAGCTTTATAAGGAA	0.328000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					18	41					0	0	0.007413	0	0
SCML1	6322	broad.mit.edu	37	X	17768022	17768022	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:17768022T>C	ENST00000380043.3	+	5	559	c.231T>C	c.(229-231)taT>taC	p.Y77Y	SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380041.3_Silent_p.Y104Y|SCML1_ENST00000380045.3_5'UTR	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	104					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGAAGCGATATGGATATAAAA	0.318000													53	81					0	0	0.003610	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350926	50350926	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:50350926G>A	ENST00000376020.2	-	6	3241	c.3216C>T	c.(3214-3216)gcC>gcT	p.A1072A	SHROOM4_ENST00000289292.7_Silent_p.A1072A|SHROOM4_ENST00000460112.3_Silent_p.A956A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1072					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGCCCCCAGGCCCGGGTGC	0.617000													23	45					0	0	0.002780	0	0
GPR142	350383	broad.mit.edu	37	17	72368049	72368049	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:72368049G>T	ENST00000335666.4	+	4	747	c.699G>T	c.(697-699)acG>acT	p.T233T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	233						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGGTGCGCACGGCCAACATCC	0.642000													9	25					0.000274275	0.00031743	0.004482	1	0
ATP5B	506	broad.mit.edu	37	12	57033788	57033788	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr12:57033788G>A	ENST00000262030.3	-	8	1313	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Silent_p.A410A	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	421					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCCACGGGCAACATCGT	0.502000													13	59					0	0	0.002450	0	0
MYH6	4624	broad.mit.edu	37	14	23869595	23869595	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr14:23869595T>A	ENST00000405093.3	-	14	1521	c.1451A>T	c.(1450-1452)gAg>gTg	p.E484V	MYH6_ENST00000356287.3_Missense_Mutation_p.E484V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	484	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCAGCTTCTCGTTGGTGAA	0.537000													26	37					0	0	0.004656	0	0
MED14	9282	broad.mit.edu	37	X	40562805	40562805	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:40562805T>A	ENST00000324817.1	-	11	1420	c.1302A>T	c.(1300-1302)gcA>gcT	p.A434A		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	434	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTGGGAGTGCAGTCTCTA	0.338000													12	20					0	0	0.001368	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347960	38347960	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:38347960G>T	ENST00000273173.4	+	1	534	c.443G>T	c.(442-444)gGc>gTc	p.G148V	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G148V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	148						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATCCAGTTTGGCCTCAATGAC	0.478000													37	106					5.71845e-15	9.144e-15	0.005524	1	0
CRIM1	51232	broad.mit.edu	37	2	36744655	36744655	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:36744655A>T	ENST00000280527.2	+	12	2543	c.2176A>T	c.(2176-2178)Acc>Tcc	p.T726S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	726	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCCCTCACGCACCCAGGATTC	0.597000													22	69					0	0	0.003330	0	0
MED12L	116931	broad.mit.edu	37	3	151101949	151101949	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:151101949C>A	ENST00000474524.1	+	33	4802	c.4764C>A	c.(4762-4764)tcC>tcA	p.S1588S	MED12L_ENST00000273432.4_Silent_p.S1448S|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1588					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATGCATCCCCTGGGGGAT	0.358000													22	33					5.49717e-05	6.55698e-05	0.003330	1	0
DDX60	55601	broad.mit.edu	37	4	169196580	169196580	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:169196580C>G	ENST00000393743.3	-	16	2511	c.2220G>C	c.(2218-2220)ctG>ctC	p.L740L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	740							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCATGTATTGCAGTTGGAACC	0.403000													13	33					0	0	0.001855	0	0
TTC37	9652	broad.mit.edu	37	5	94863776	94863776	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:94863776C>T	ENST00000358746.2	-	13	1373	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	359							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTAATCAAAGCCTCTGCTTTC	0.378000													14	27					0	0	0.003163	0	0
HLTF	6596	broad.mit.edu	37	3	148789207	148789207	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:148789207T>A	ENST00000310053.5	-	7	919	c.726A>T	c.(724-726)ccA>ccT	p.P242P	HLTF_ENST00000465259.1_Silent_p.P242P|HLTF_ENST00000392912.2_Silent_p.P242P|HLTF_ENST00000494055.1_Silent_p.P242P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	242					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTTTGATGTGGAAGCAGTG	0.358000													12	21					0	0	0.004007	0	0
OR10W1	81341	broad.mit.edu	37	11	58035220	58035220	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:58035220C>A	ENST00000395079.2	-	1	512	c.111G>T	c.(109-111)gtG>gtT	p.V37V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAATGGACACCACAATGAGAA	0.493000													10	62					0.000442599	0.000509567	0.006214	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857957	9857957	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr16:9857957C>T	ENST00000396573.2	-	14	3753	c.3444G>A	c.(3442-3444)ccG>ccA	p.P1148P	GRIN2A_ENST00000330684.3_Silent_p.P1148P|GRIN2A_ENST00000396575.2_Silent_p.P1148P|GRIN2A_ENST00000562109.1_Silent_p.P1148P|GRIN2A_ENST00000404927.2_Silent_p.P1148P|GRIN2A_ENST00000535259.1_Silent_p.P991P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1148					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGGGGTCCGGGAAGTCCA	0.527000													50	124					0	0	0.003610	0	0
DQX1	165545	broad.mit.edu	37	2	74751353	74751353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:74751353C>A	ENST00000404568.3	-	4	732	c.513G>T	c.(511-513)gaG>gaT	p.E171D	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.E171D	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	171	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTCCTGAGCCTCATCTAGTA	0.597000													19	129					1.15919e-05	1.41323e-05	0.008871	1	0
SCN5A	6331	broad.mit.edu	37	3	38598729	38598729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr3:38598729G>A	ENST00000413689.1	-	24	4485	c.4292C>T	c.(4291-4293)tCc>tTc	p.S1431F	SCN5A_ENST00000455624.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1430F|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1431F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1431					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TACCCCCCTGGAGTCCACAGC	0.502000													5	55					0	0	0.004482	0	0
COL18A1	80781	broad.mit.edu	37	21	46901927	46901927	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr21:46901927G>A	ENST00000359759.4	+	13	2928	c.2907G>A	c.(2905-2907)caG>caA	p.Q969Q	COL18A1_ENST00000400337.2_Silent_p.Q554Q|COL18A1_ENST00000355480.5_Silent_p.Q734Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	969	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGACTGGGCAGAAAGGCAGCC	0.647000													7	33					0	0	0.004482	0	0
SBDS	51119	broad.mit.edu	37	7	66456250	66456250	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:66456250C>G	ENST00000246868.2	-	4	681	c.498G>C	c.(496-498)aaG>aaC	p.K166N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	166					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CACGTTCTATCTTCATTTTCT	0.373000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				4	30					0	0	0.000602	0	0
P2RY8	286530	broad.mit.edu	37	X	1584790	1584790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:1584790A>T	ENST00000381297.4	-	2	872	c.662T>A	c.(661-663)tTg>tAg	p.L221*		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	221						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)				CTCCGTGCGCAACAGCTTGAG	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""								12	26					0	0	0.000978	0	0
SETDB2	83852	broad.mit.edu	37	13	50034254	50034254	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:50034254A>G	ENST00000354234.4	+	3	934	c.28A>G	c.(28-30)Act>Gct	p.T10A	SETDB2_ENST00000317257.8_Missense_Mutation_p.T10A|SETDB2_ENST00000258672.5_Missense_Mutation_p.T10A	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	10					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CGATGCAAAAACTTTCTGGAT	0.328000													50	108					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762527	77762527	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:77762527C>G	ENST00000521891.2	+	9	4341	c.3893C>G	c.(3892-3894)gCa>gGa	p.A1298G	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1253G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1253G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1272G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1253						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACTGCCAGCAGCTGCCTCT	0.478000										HNSCC(33;0.089)			3	17					0	0	0.004672	0	0
BRDT	676	broad.mit.edu	37	1	92441925	92441925	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:92441925A>G	ENST00000370389.2	+	5	1253	c.329A>G	c.(328-330)aAg>aGg	p.K110R	BRDT_ENST00000399546.2_Missense_Mutation_p.K183R|BRDT_ENST00000362005.3_Missense_Mutation_p.K183R|BRDT_ENST00000394530.3_Missense_Mutation_p.K137R|BRDT_ENST00000402388.1_Missense_Mutation_p.K183R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	183	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTATTTCCTAAGACATCTATT	0.388000													19	45					0	0	0.007413	0	0
LPAR4	2846	broad.mit.edu	37	X	78010848	78010848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:78010848G>A	ENST00000435339.2	+	2	887	c.482G>A	c.(481-483)gGt>gAt	p.G161D	LPAR4_ENST00000373301.2_Missense_Mutation_p.G161D	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	161						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGTGTGCTGGTGTCTGGATC	0.458000													40	93					0	0	0.005524	0	0
FDXR	2232	broad.mit.edu	37	17	72860303	72860303	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:72860303T>A	ENST00000455107.2	-	10	1253	c.837A>T	c.(835-837)gcA>gcT	p.A279A	FDXR_ENST00000581530.1_Silent_p.A329A|FDXR_ENST00000442102.2_Silent_p.A366A|FDXR_ENST00000293195.5_Silent_p.A323A|FDXR_ENST00000583917.1_Silent_p.A295A|FDXR_ENST00000582944.1_Silent_p.A315A|FDXR_ENST00000544854.1_Silent_p.A271A|FDXR_ENST00000420580.2_Silent_p.A283A|FDXR_ENST00000413947.2_Silent_p.A354A			P22570	ADRO_HUMAN	ferredoxin reductase	323					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACACCTGCTGCCCGCCGCC	0.667000													8	49					0	0	0.004482	0	0
DCLK1	9201	broad.mit.edu	37	13	36410270	36410270	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr13:36410270C>T	ENST00000255448.4	-	8	1340	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K|DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	377					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAGCCTTCCTCCGACACTTCT	0.358000													31	95					0	0	0.002836	0	0
ZNF613	79898	broad.mit.edu	37	19	52447603	52447603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr19:52447603G>T	ENST00000293471.6	+	6	1146	c.467G>T	c.(466-468)gGg>gTg	p.G156V	ZNF613_ENST00000391794.4_Missense_Mutation_p.G120V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATTCTGTGGGGGTTAATGGA	0.348000													18	85					1.99824e-07	2.59888e-07	0.004990	1	0
MAPK14	1432	broad.mit.edu	37	6	36075254	36075254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:36075254G>T	ENST00000229795.3	+	11	1311	c.864G>T	c.(862-864)atG>atT	p.M288I	MAPK14_ENST00000468133.1_Missense_Mutation_p.M211I|MAPK14_ENST00000229794.4_Missense_Mutation_p.M288I|MAPK14_ENST00000310795.4_Missense_Mutation_p.C262F	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	288	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGGAGAAGATGCTTGTATTGG	0.433000													59	96					1.37693e-34	2.53908e-34	0.003610	1	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	265	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101196902	101196903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:101196902_101196903insT	ENST00000294728.2	+	6	1454_1455	c.1353_1354insT	c.(1351-1356)gattttfs	p.DF451fs	VCAM1_ENST00000370119.4_Frame_Shift_Ins_p.DF389fs|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Ins_p.DF359fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	451	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAATATAGAGTTTTTGGAGGA	0.441													11	87	---	---	---	---					
AKNAD1	254268	broad.mit.edu	37	1	109377596	109377596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:109377596delG	ENST00000370001.3	-	8	1887	c.1619delC	c.(1618-1620)cgfs	p.P540fs	AKNAD1_ENST00000357393.4_Frame_Shift_Del_p.P247fs|AKNAD1_ENST00000369995.3_Frame_Shift_Del_p.P540fs|AKNAD1_ENST00000369994.1_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	540										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGCCTCCTGCGGCCCTCCTTG	0.662													13	46	---	---	---	---					
HOXD12	3238	broad.mit.edu	37	2	176964687	176964689	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:176964687_176964689delCCA	ENST00000406506.2	+	1	230_232	c.158_160delCCA	c.(157-162)gcg>g	p.AT53del	HOXD12_ENST00000404162.2_In_Frame_Del_p.AT53del			P35452	HXD12_HUMAN	homeobox D12	53						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A53D(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCCTGGGCCGCCACGCCCGCCTC	0.734													14	39	---	---	---	---					
NPY2R	4887	broad.mit.edu	37	4	156135819	156135819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:156135819delG	ENST00000329476.3	+	2	1217	c.728delG	c.(727-729)tgfs	p.W243fs	NPY2R_ENST00000506608.1_Frame_Shift_Del_p.W243fs	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	243					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTCGCATTTGGAGTAAATTG	0.443													30	66	---	---	---	---					
ACOT12	134526	broad.mit.edu	37	5	80631600	80631600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:80631600delC	ENST00000307624.3	-	12	1277	c.1249delG	c.(1249-1251)acfs	p.D417fs	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	417	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAATGGGGGTCCCACAAAGGT	0.393													39	54	---	---	---	---					
CAMK4	814	broad.mit.edu	37	5	110818622	110818622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:110818622delG	ENST00000282356.4	+	10	1366	c.968delG	c.(967-969)cgfs	p.R324fs	CAMK4_ENST00000512453.1_Frame_Shift_Del_p.R324fs|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	324	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTCAATGCCCGGCGTAAGCTT	0.368													10	17	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31594793	31594793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:31594793delC	ENST00000376033.2	+	11	1342	c.1108delC	c.(1108-1110)ccfs	p.P371fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P371fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	371	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAGGAACGGCCCCCTGAAGC	0.517													20	101	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100395721	100395721	+	Frame_Shift_Del	DEL	C	C	-	rs138925190	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:100395721delC	ENST00000281806.2	-	3	623	c.309delG	c.(307-309)ggfs	p.G103fs	MCHR2_ENST00000369212.1_Frame_Shift_Del_p.G103fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.G103fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	103						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCAGAGAGGCCCCCCAAACA	0.488													43	94	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127837137	127837137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:127837137delC	ENST00000556132.1	-	2	1487	c.623delG	c.(622-624)gcfs	p.G208fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.G208fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	208	Gly-rich.					integral to membrane											CCCGCCGCTGCCGCCCCTCTG	0.751													9	15	---	---	---	---					
CLCN1	1180	broad.mit.edu	37	7	143039216	143039217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:143039216_143039217insT	ENST00000343257.2	+	15	1864_1865	c.1777_1778insT	c.(1777-1779)tggfs	p.W593fs		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	593					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTGCCTGACCTTGGCTGGAAC	0.535													24	28	---	---	---	---					
DLGAP2	9228	broad.mit.edu	37	8	1497504	1497505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:1497504_1497505insT	ENST00000421627.2	+	2	779_780	c.645_646insT	c.(643-648)agggtgfs	p.RV215fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	294					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCATGAGCAGCTGGTGGAGCTC	0.693													11	75	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43197456	43197456	+	RNA	DEL	A	A	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:43197456delA	ENST00000522175.2	+	0	1209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAACAACTCAAAATGGATTT	0.363													18	60	---	---	---	---					
TRIM48	79097	broad.mit.edu	37	11	55032507	55032507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55032507delG	ENST00000417545.2	+	2	262	c.176delG	c.(175-177)tgfs	p.W59fs		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	43						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACCTCAACTGGCAAGACATC	0.463													53	122	---	---	---	---					
OR8K5	219453	broad.mit.edu	37	11	55927671	55927672	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55927671_55927672insC	ENST00000313447.1	-	1	121_122	c.122_123insG	c.(121-123)gaafs	p.E41fs		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGTTAGGTTGCCCACCACTGT	0.426													16	83	---	---	---	---					
OR5T3	390154	broad.mit.edu	37	11	56019980	56019980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:56019980delG	ENST00000303059.3	+	1	305	c.305delG	c.(304-306)tcfs	p.C102fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTGGATGCTTGCTATTCTACA	0.373													33	65	---	---	---	---					
ITGA2B	3674	broad.mit.edu	37	17	42462399	42462399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:42462399delC	ENST00000262407.5	-	7	747	c.716delG	c.(715-717)ccfs	p.R239fs	ITGA2B_ENST00000377068.3_Intron|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.R239fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	239					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GATGCCTGGGCGGTAACTCGA	0.607													37	109	---	---	---	---					
GPRC5C	55890	broad.mit.edu	37	17	72436961	72436961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72436961delT	ENST00000392627.1	+	2	2307	c.1181delT	c.(1180-1182)gtfs	p.V394fs	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Frame_Shift_Del_p.V361fs|GPRC5C_ENST00000342648.5_Frame_Shift_Del_p.V34fs	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	349						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GATGAGCCGGTTGCAGGTGGG	0.552													11	48	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													9	99	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													2	4	---	---	---	---					
MSN	4478	broad.mit.edu	37	X	64957044	64957044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:64957044delG	ENST00000360270.5	+	10	1267	c.1095delG	c.(1093-1095)ctfs	p.L365fs	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	365					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCTCAGAACTGGAAGAACAGA	0.532			T	ALK	ALCL								10	23	---	---	---	---					
ARMCX2	9823	broad.mit.edu	37	X	100911734	100911735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:100911734_100911735insT	ENST00000328766.5	-	5	1293_1294	c.840_841insA	c.(838-843)aagtggfs	p.W281fs	ARMCX2_ENST00000356824.4_Frame_Shift_Ins_p.W281fs|ARMCX2_ENST00000330154.2_Frame_Shift_Ins_p.W281fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	281						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTGCCTCCACCTTTGGGTACCG	0.584													42	304	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													9	321	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101196902	101196903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:101196902_101196903insT	ENST00000294728.2	+	6	1454_1455	c.1353_1354insT	c.(1351-1356)gattttfs	p.DF451fs	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Ins_p.DF359fs|VCAM1_ENST00000370119.4_Frame_Shift_Ins_p.DF389fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	451	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAATATAGAGTTTTTGGAGGA	0.441													11	87	---	---	---	---					
AKNAD1	254268	broad.mit.edu	37	1	109377596	109377596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr1:109377596delG	ENST00000370001.3	-	8	1887	c.1619delC	c.(1618-1620)cgfs	p.P540fs	AKNAD1_ENST00000357393.4_Frame_Shift_Del_p.P247fs|AKNAD1_ENST00000369995.3_Frame_Shift_Del_p.P540fs|AKNAD1_ENST00000369994.1_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	540										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGCCTCCTGCGGCCCTCCTTG	0.662													13	46	---	---	---	---					
HOXD12	3238	broad.mit.edu	37	2	176964687	176964689	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr2:176964687_176964689delCCA	ENST00000406506.2	+	1	230_232	c.158_160delCCA	c.(157-162)gcg>g	p.AT53del	HOXD12_ENST00000404162.2_In_Frame_Del_p.AT53del			P35452	HXD12_HUMAN	homeobox D12	53						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A53D(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCCTGGGCCGCCACGCCCGCCTC	0.734													14	39	---	---	---	---					
NPY2R	4887	broad.mit.edu	37	4	156135819	156135819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr4:156135819delG	ENST00000329476.3	+	2	1217	c.728delG	c.(727-729)tgfs	p.W243fs	NPY2R_ENST00000506608.1_Frame_Shift_Del_p.W243fs	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	243					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTCGCATTTGGAGTAAATTG	0.443													30	66	---	---	---	---					
ACOT12	134526	broad.mit.edu	37	5	80631600	80631600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:80631600delC	ENST00000307624.3	-	12	1277	c.1249delG	c.(1249-1251)acfs	p.D417fs	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	417	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAATGGGGGTCCCACAAAGGT	0.393													39	54	---	---	---	---					
CAMK4	814	broad.mit.edu	37	5	110818622	110818622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr5:110818622delG	ENST00000282356.4	+	10	1366	c.968delG	c.(967-969)cgfs	p.R324fs	CAMK4_ENST00000512453.1_Frame_Shift_Del_p.R324fs|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	324	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTCAATGCCCGGCGTAAGCTT	0.368													10	17	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31594793	31594793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:31594793delC	ENST00000376033.2	+	11	1342	c.1108delC	c.(1108-1110)ccfs	p.P371fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P371fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	371	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAGGAACGGCCCCCTGAAGC	0.517													20	101	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100395721	100395721	+	Frame_Shift_Del	DEL	C	C	-	rs138925190	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:100395721delC	ENST00000281806.2	-	3	623	c.309delG	c.(307-309)ggfs	p.G103fs	MCHR2_ENST00000369212.1_Frame_Shift_Del_p.G103fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.G103fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	103						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCAGAGAGGCCCCCCAAACA	0.488													43	94	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127837137	127837137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr6:127837137delC	ENST00000556132.1	-	2	1487	c.623delG	c.(622-624)gcfs	p.G208fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.G208fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	208	Gly-rich.					integral to membrane											CCCGCCGCTGCCGCCCCTCTG	0.751													9	15	---	---	---	---					
CLCN1	1180	broad.mit.edu	37	7	143039216	143039217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:143039216_143039217insT	ENST00000343257.2	+	15	1864_1865	c.1777_1778insT	c.(1777-1779)tggfs	p.W593fs		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	593					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTGCCTGACCTTGGCTGGAAC	0.535													24	28	---	---	---	---					
ZNF282	8427	broad.mit.edu	37	7	148920939	148920940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr7:148920939_148920940insC	ENST00000262085.3	+	8	1321_1322	c.1216_1217insC	c.(1216-1218)cccfs	p.P406fs	ZNF282_ENST00000479907.1_Frame_Shift_Ins_p.P406fs	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	406					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		cccacccccggccccgccacag	0.703													3	4	---	---	---	---					
DLGAP2	9228	broad.mit.edu	37	8	1497504	1497505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:1497504_1497505insT	ENST00000421627.2	+	2	779_780	c.645_646insT	c.(643-648)agggtgfs	p.RV215fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	294					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCATGAGCAGCTGGTGGAGCTC	0.693													11	75	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43197456	43197456	+	RNA	DEL	A	A	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr8:43197456delA	ENST00000522175.2	+	0	1209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAACAACTCAAAATGGATTT	0.363													18	60	---	---	---	---					
TRIM48	79097	broad.mit.edu	37	11	55032507	55032507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:55032507delG	ENST00000417545.2	+	2	262	c.176delG	c.(175-177)tgfs	p.W59fs		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	43						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACCTCAACTGGCAAGACATC	0.463													53	122	---	---	---	---					
OR8K5	219453	broad.mit.edu	37	11	55927671	55927672	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:55927671_55927672insC	ENST00000313447.1	-	1	121_122	c.122_123insG	c.(121-123)gaafs	p.E41fs		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGTTAGGTTGCCCACCACTGT	0.426													16	83	---	---	---	---					
OR5T3	390154	broad.mit.edu	37	11	56019980	56019980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr11:56019980delG	ENST00000303059.3	+	1	305	c.305delG	c.(304-306)tcfs	p.C102fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTGGATGCTTGCTATTCTACA	0.373													33	65	---	---	---	---					
ITGA2B	3674	broad.mit.edu	37	17	42462399	42462399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:42462399delC	ENST00000262407.5	-	7	747	c.716delG	c.(715-717)ccfs	p.R239fs	ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.R239fs|ITGA2B_ENST00000377068.3_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	239					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GATGCCTGGGCGGTAACTCGA	0.607													37	109	---	---	---	---					
GPRC5C	55890	broad.mit.edu	37	17	72436961	72436961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr17:72436961delT	ENST00000392627.1	+	2	2307	c.1181delT	c.(1180-1182)gtfs	p.V394fs	GPRC5C_ENST00000392629.2_Frame_Shift_Del_p.V361fs|GPRC5C_ENST00000342648.5_Frame_Shift_Del_p.V34fs|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	349						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GATGAGCCGGTTGCAGGTGGG	0.552													11	48	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24039787	24039787	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chr18:24039787delT	ENST00000417602.1	-	4	2235	c.2236delA	c.(2236-2238)ggfs	p.R746fs	KCTD1_ENST00000408011.3_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000317932.7_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000579973.1_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000580059.1_Frame_Shift_Del_p.R138fs	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	138					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCACAGGGCCTTGAAAATCGA	0.468													31	39	---	---	---	---					
MSN	4478	broad.mit.edu	37	X	64957044	64957044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:64957044delG	ENST00000360270.5	+	10	1267	c.1095delG	c.(1093-1095)ctfs	p.L365fs	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	365					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCTCAGAACTGGAAGAACAGA	0.532			T	ALK	ALCL								10	23	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	ec4042d8-b035-4b3d-b560-8ef03f4fda1a	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													9	321	---	---	---	---					
