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
LILRA4	23547	broad.mit.edu	37	19	54849767	54849767	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:54849767G>A	ENST00000291759.4	-	3	311	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	85	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCATGGATGGGATGGAGAGTT	0.537000													95	60					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4213897	4213897	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:4213897G>A	ENST00000404826.2	+	33	4983	c.4844G>A	c.(4843-4845)aGg>aAg	p.R1615K	SDK1_ENST00000389531.3_Missense_Mutation_p.R1615K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1615	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGATACAGGATCTACTAC	0.552000													84	486					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897940	36897940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:36897940C>T	ENST00000301807.6	-	12	3388	c.1491G>A	c.(1489-1491)tgG>tgA	p.W497*	TRANK1_ENST00000429976.2_Nonsense_Mutation_p.W1047*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.W497*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1047					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAATTTCTTCCACAATCTGT	0.532000													29	18					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366138	123366138	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:123366138G>A	ENST00000360772.3	-	28	4930	c.4552C>T	c.(4552-4554)Cac>Tac	p.H1518Y	MYLK_ENST00000360304.3_Missense_Mutation_p.H1518Y|MYLK_ENST00000359169.1_Missense_Mutation_p.H1518Y|MYLK_ENST00000354792.5_Missense_Mutation_p.H318Y|MYLK_ENST00000346322.5_Missense_Mutation_p.H1449Y|MYLK_ENST00000475616.1_Missense_Mutation_p.H1518Y			Q15746	MYLK_HUMAN	myosin light chain kinase	1518	Protein kinase.			H -> P (in Ref. 5; AAR29061/AAR29062).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCTTAGGGTGGTGGAGGCAG	0.512000													26	48					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744373	5744373	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:5744373G>A	ENST00000356134.5	-	18	1835	c.1764C>T	c.(1762-1764)gtC>gtT	p.V588V	ANO2_ENST00000327087.8_Silent_p.V587V|ANO2_ENST00000546188.1_Silent_p.V588V	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	592						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGATGAGGATGACCACGAGGT	0.527000													5	44					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967083	58967083	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:58967083G>A	ENST00000391696.1	+	3	1674	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	ZNF324B_ENST00000336614.4_Missense_Mutation_p.E258K|ZNF324B_ENST00000545523.1_Missense_Mutation_p.E258K			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAAGTCCTTCGAATGCAGGGC	0.657000													20	17					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065783	32065783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:32065783C>T	ENST00000375244.3	-	2	394	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	TNXB_ENST00000375247.2_Missense_Mutation_p.E65K|TNXB_ENST00000479795.1_Missense_Mutation_p.E65K			P22105	TENX_HUMAN	tenascin XB	65					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCTCCTTCCACTGTGTGC	0.657000													32	38					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													5	36					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982376	57982376	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:57982376G>A	ENST00000309433.6	+	1	160	c.160G>A	c.(160-162)Ggg>Agg	p.G54R		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CACTGTGATTGGGAACGGGCT	0.448000													60	193					0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48069149	48069149	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:48069149G>A	ENST00000434704.2	-	3	821	c.596C>T	c.(595-597)cCc>cTc	p.P199L	DLX3_ENST00000512495.2_Missense_Mutation_p.P79L	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ACTGTTATTGGGACTGTGCTC	0.592000													58	95					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444709	20444709	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:20444709C>T	ENST00000305051.5	+	1	1107	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCTTTTCCTAGAAACAA	0.388000													20	21					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19485589	19485589	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:19485589T>A	ENST00000396229.2	+	12	2830	c.2081T>A	c.(2080-2082)cTc>cAc	p.L694H	TMC5_ENST00000564959.1_Missense_Mutation_p.L377H|TMC5_ENST00000542583.2_Missense_Mutation_p.L694H|TMC5_ENST00000541464.1_Missense_Mutation_p.L642H|TMC5_ENST00000381414.4_Missense_Mutation_p.L694H|TMC5_ENST00000219821.5_Missense_Mutation_p.L448H|TMC5_ENST00000561503.1_Missense_Mutation_p.L335H	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	694						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTACGTTCTCCTGATCCGG	0.507000													87	72					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067760	43067760	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:43067760G>A	ENST00000267890.6	-	13	1679	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	524					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGCCTGCTCAGGGGTGTTGGC	0.488000													30	105					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141802440	141802440	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:141802440G>A	ENST00000475668.2	+	69	8028	c.7974G>A	c.(7972-7974)ggG>ggA	p.G2658G	MGAM_ENST00000549489.2_Silent_p.G1762G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418000													11	24					0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846097	143846097	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:143846097C>T	ENST00000335822.5	-	5	949	c.322G>A	c.(322-324)Gat>Aat	p.D108N	RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000317543.7_Missense_Mutation_p.D74N	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	74						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGGATATCGGGGCAGCCT	0.632000													57	122					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308858	31308858	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:31308858C>T	ENST00000544665.3	+	13	1451	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	ITGAM_ENST00000287497.8_Silent_p.S460S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	460					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCGGGGCCTCCCTCTGCTCCG	0.592000													73	146					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428803	142428803	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:142428803C>T	ENST00000390400.2	+	0	183																											GTTCTGGTATCGACAAGACCC	0.423000													13	54					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135984183	135984183	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:135984183G>A	ENST00000393160.3	-	5	843	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	RALGDS_ENST00000372050.3_Missense_Mutation_p.P219S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.P218S|RALGDS_ENST00000372047.3_Missense_Mutation_p.P207S|RALGDS_ENST00000372062.3_Missense_Mutation_p.P190S|RALGDS_ENST00000542690.1_Missense_Mutation_p.P290S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	219	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGAGGCAGGGAAAGTCCGGA	0.632000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								19	25					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008062	21008062	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:21008062C>T	ENST00000381545.3	+	4	404	c.185C>T	c.(184-186)tCc>tTc	p.S62F	LST3_ENST00000540229.1_Missense_Mutation_p.S62F|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S62F|LST3_ENST00000381541.3_Missense_Mutation_p.S62F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S62F|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S62F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	62					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S62Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTGACATATCCTCTTCTCTT	0.328000													27	29					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638020	234638020	+	Missense_Mutation	SNP	C	C	T	rs143192251		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:234638020C>T	ENST00000482026.1	+	1	267	c.248C>T	c.(247-249)tCg>tTg	p.S83L	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATGCCATTTCGTGGACCCAG	0.468000													86	86					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17702529	17702529	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:17702529T>C	ENST00000377524.3	+	2	322	c.107T>C	c.(106-108)gTt>gCt	p.V36A	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	36	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTGATAAAGTTGGTCAGTCT	0.413000													42	31					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722157	8722157	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:8722157G>A	ENST00000378641.3	+	23	2935	c.2460G>A	c.(2458-2460)atG>atA	p.M820I	PLCB1_ENST00000378637.2_Missense_Mutation_p.M820I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M820I|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	820					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAACCTGATGGAACAGAGAG	0.373000													31	31					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786620	164786620	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:164786620C>T	ENST00000264382.3	-	5	436		c.e5-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTTCAACTCCTTAAAGAATA	0.299000										HNSCC(35;0.089)			32	103					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:145038046C>T	ENST00000360771.4	-	5	433	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000503627.1_Silent_p.T61T|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000													63	66					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708144	29708144	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:29708144G>A	ENST00000406549.3	+	6	1173	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	358					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCTCCTCTTCGTCCCTCAGCG	0.657000													5	207					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837993	92837993	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:92837993C>T	ENST00000394468.2	-	4	989	c.912G>A	c.(910-912)gaG>gaA	p.E304E	HEPACAM2_ENST00000341723.4_Silent_p.E292E|HEPACAM2_ENST00000440868.1_Silent_p.E292E|HEPACAM2_ENST00000453812.2_Silent_p.E327E	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	304	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGCTACTTTCTCAGATGCAA	0.448000													20	94					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8224227	8224227	+	Missense_Mutation	SNP	A	A	T	rs140557878		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:8224227A>T	ENST00000361926.3	+	16	2552	c.2442A>T	c.(2440-2442)gaA>gaT	p.E814D	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.E814D	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	814					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGAACACGAAAGGAGGAGGC	0.612000													50	14					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80430572	80430572	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:80430572C>T	ENST00000390006.4	+	5	815	c.341C>T	c.(340-342)cCt>cTt	p.P114L	NARF_ENST00000345415.7_Missense_Mutation_p.P125L|NARF_ENST00000457415.3_Missense_Mutation_p.P173L|NARF_ENST00000309794.10_Missense_Mutation_p.P173L|NARF_ENST00000412079.2_Intron|NARF_ENST00000581743.1_3'UTR	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	173						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTGCCTGTCCTGGTGAGCCC	0.562000													31	53					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500767	90500767	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:90500767C>T	ENST00000325643.5	+	4	1431	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CGACCACAGTCTGGGTTTCTA	0.542000													75	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642537	179642537	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:179642537G>A	ENST00000589042.1	-	25	4598	c.4374C>T	c.(4372-4374)gtC>gtT	p.V1458V	TTN_ENST00000342992.6_Silent_p.V1458V|TTN_ENST00000460472.2_Silent_p.V1412V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Silent_p.V1458V|TTN_ENST00000359218.5_Silent_p.V1412V|TTN_ENST00000342175.6_Silent_p.V1412V|TTN_ENST00000360870.5_Silent_p.V1458V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1458	Ig-like 6.						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)			TTAACACAAAGACTGGTTTAT	0.453000													41	57					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311253	124311253	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:124311253C>T	ENST00000409039.3	+	24	3870	c.3845C>T	c.(3844-3846)tCt>tTt	p.S1282F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1282	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGAATGGTCTCAGACCCTT	0.473000													44	13					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855553	31855553	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:31855553C>T	ENST00000396184.3	-	16	2002	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.E600K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E600K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E600K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E660K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	600					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGTTGCTGTTCTCCTGATGAC	0.448000													126	198					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38610784	38610784	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:38610784G>A	ENST00000288304.5	-	3	994	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.H110Y|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000309117.6_Missense_Mutation_p.H110Y|DSCR3_ENST00000398998.1_Missense_Mutation_p.H62Y|DSCR3_ENST00000399001.1_Intron			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	110					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						AACACGCCATGATACGTCTCA	0.448000													33	86					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540481	133540481	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:133540481G>A	ENST00000409261.1	-	14	4276	c.3903C>T	c.(3901-3903)atC>atT	p.I1301I	NCKAP5_ENST00000317721.6_Silent_p.I1301I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1301							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						TATTGGTAATGATCTGAGTGC	0.562000													59	68					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26582060	26582060	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:26582060C>T	ENST00000252992.4	+	4	738	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	CEP85_ENST00000451429.2_Missense_Mutation_p.H152Y	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	203						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGATCCTCACCACCGAGTCCG	0.507000													56	127					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			144	120					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440072	25440072	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:25440072C>T	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						TGGGTTGGGTCGATGATGAGA	0.522000													159	210					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152695823	152695823	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:152695823G>A	ENST00000360283.6	-	13	1531	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	CACNB4_ENST00000397327.2_Missense_Mutation_p.S411F|CACNB4_ENST00000427385.1_Missense_Mutation_p.S440F|CACNB4_ENST00000201943.5_Missense_Mutation_p.S396F|CACNB4_ENST00000534999.1_Missense_Mutation_p.S424F|CACNB4_ENST00000539935.1_Missense_Mutation_p.S458F			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	458					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATTTTCATCAGAGGTCATTAG	0.418000													21	102					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:22102951G>A	ENST00000542433.1	-	1	145	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGAAGAATGAAATCTGTCA	0.458000													29	93					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409262	28409262	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:28409262T>C	ENST00000337532.5	-	11	1024	c.748A>G	c.(748-750)Aag>Gag	p.K250E	MPP7_ENST00000445954.2_Missense_Mutation_p.K125E|MPP7_ENST00000375719.3_Missense_Mutation_p.K250E|MPP7_ENST00000540098.1_Missense_Mutation_p.K250E|MPP7_ENST00000375732.1_Missense_Mutation_p.K250E	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	250	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCAGCTTCCTTACATGGAATT	0.373000													38	49					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323423	44323423	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:44323423C>T	ENST00000354250.2	+	3	370	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TAGTCCCAGTCCCAGTGGCAG	0.468000													103	60					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188831	24188831	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:24188831G>A	ENST00000265769.4	+	12	1382	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	ADAM28_ENST00000540823.1_Silent_p.G191G|ADAM28_ENST00000397649.3_Silent_p.G171G|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.G424G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	424	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGATTGTGGGACATCTGAGG	0.403000													22	46					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43450556	43450556	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:43450556C>T	ENST00000282041.5	-	36	6235	c.6201G>A	c.(6199-6201)caG>caA	p.Q2067Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2067					autophagy			p.Q2067H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCATGAGCATCTGGTCAGGGT	0.517000													9	56					0	0	1	0	0
HHLA3	11147	broad.mit.edu	37	1	70832139	70832139	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:70832139G>A	ENST00000370940.5	+	2	289	c.173G>A	c.(172-174)gGa>gAa	p.G58E	HHLA3_ENST00000531950.1_Silent_p.R90R|HHLA3_ENST00000432224.1_Missense_Mutation_p.G91E|HHLA3_ENST00000359875.5_Silent_p.R90R|HHLA3_ENST00000361764.4_Missense_Mutation_p.E57K	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	0							protein binding			large_intestine(3)|lung(1)	4						CTtgtcaacggaaaggggtcc	0.333000													8	38					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372917	372917	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:372917G>A	ENST00000329962.6	+	4	414	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	138						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCACCTGAGGAGGAACCTGC	0.672000													12	48					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70983763	70983763	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:70983763G>A	ENST00000357250.6	-	12	1210	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	COL9A1_ENST00000320755.7_Missense_Mutation_p.S108L|COL9A1_ENST00000370499.4_Missense_Mutation_p.S108L|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	351	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAATCCACGCGATCCAGGCAC	0.294000													28	14					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184769774	184769774	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:184769774C>T	ENST00000287546.4	+	47	4419	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	VPS8_ENST00000446204.2_Silent_p.F1324F|VPS8_ENST00000437079.3_Silent_p.F1416F|VPS8_ENST00000436792.2_Silent_p.F1414F	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1416							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATGAGAACTTCCAGCTGCAGC	0.562000													40	52					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722497	14722497	+	Silent	SNP	G	G	A	rs145324660	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:14722497G>A	ENST00000380911.3	-	1	218	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	58					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGCACTGCGACAAACAGAT	0.542000													46	49					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:10914364G>A	ENST00000298232.7	-	20	1668	c.1302_splice	c.e20+1	p.S434_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S414_splice|TPTE_ENST00000361285.4_Splice_Site_p.S452_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323000													20	69					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969364	140969364	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:140969364G>A	ENST00000298296.1	+	4	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGCCCGTGAGTTCATAGA	0.443000													73	15					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565118	11565118	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:11565118G>A	ENST00000304623.8	-	3	414	c.225C>T	c.(223-225)atC>atT	p.I75I	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I75I|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	75					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						GGCTGGCTACGATCTGCCGTT	0.512000													25	8					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142411	5142411	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:5142411G>A	ENST00000498233.1	-	0	987																		p.P133H(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACGCCTCAGAGGATAACAGAT	0.483000													26	34					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:113519565C>T	ENST00000284601.3	-	4	1650	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000													24	57					0	0	1	0	0
DEDD	9191	broad.mit.edu	37	1	161092132	161092132	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:161092132G>A	ENST00000392188.1	-	6	1086	c.852C>T	c.(850-852)acC>acT	p.T284T	DEDD_ENST00000545495.1_Silent_p.T254T|DEDD_ENST00000368005.1_Silent_p.T284T|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Silent_p.T254T|DEDD_ENST00000458050.2_Silent_p.T254T			O75618	DEDD_HUMAN	death effector domain containing	254					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATCGAGGTAGGTGAGCTCAG	0.517000													97	98					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779442	133779442	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:133779442T>C	ENST00000253018.4	-	6	1208	c.490A>G	c.(490-492)Acc>Gcc	p.T164A	FIBCD1_ENST00000372337.2_3'UTR|FIBCD1_ENST00000448616.1_3'UTR|FIBCD1_ENST00000372338.4_3'UTR			Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	34					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AAGGACAAGGTGCACCAGTCT	0.637000													4	12					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154108436	154108436	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:154108436G>A	ENST00000368559.3	-	7	934	c.863C>T	c.(862-864)cCc>cTc	p.P288L	NUP210L_ENST00000271854.3_Missense_Mutation_p.P288L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	288						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATGTTCCAGGGGAAATTTCAC	0.388000													36	44					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415786	57415786	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:57415786G>A	ENST00000313949.7	+	1	1014	c.625G>A	c.(625-627)Gag>Aag	p.E209K	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E209K|GNAS_ENST00000371098.2_Missense_Mutation_p.E209K|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	331					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGAGTCGAAGGAGCCCAAGGA	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	24					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43623379	43623379	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:43623379C>T	ENST00000372165.4	+	3	482	c.429C>T	c.(427-429)gcC>gcT	p.A143A	RSPH9_ENST00000372163.4_Silent_p.A158A	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	158					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCCGAGGCGCCCTCTTCAAGA	0.567000									Kartagener syndrome				163	224					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960568	154960568	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:154960568C>T	ENST00000368431.3	+	3	883	c.63C>T	c.(61-63)ccC>ccT	p.P21P	FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000405236.2_Silent_p.P21P|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATCTTCCCCTTCAACCCCC	0.557000													135	210					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41256241	41256241	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:41256241G>C	ENST00000357654.3	-	6	457	c.339C>G	c.(337-339)aaC>aaG	p.N113K	BRCA1_ENST00000493795.1_Missense_Mutation_p.N66K|BRCA1_ENST00000491747.2_Missense_Mutation_p.N113K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.N113K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N113K|BRCA1_ENST00000352993.3_Missense_Mutation_p.N113K|BRCA1_ENST00000468300.1_Missense_Mutation_p.N113K|BRCA1_ENST00000346315.3_Missense_Mutation_p.N113K|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000354071.3_Missense_Mutation_p.N113K|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	113					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)		GTTCAGGAGAGTTATTTTCCT	0.333000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			57	71					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59556124	59556124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:59556124C>T	ENST00000393853.4	+	6	849	c.686C>T	c.(685-687)tCc>tTc	p.S229F	TBX4_ENST00000240335.1_Missense_Mutation_p.S229F|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	229					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						TCTGTGACCTCCTACCAGAAT	0.542000													82	105					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409261	28409261	+	Missense_Mutation	SNP	T	T	C	rs112460703		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:28409261T>C	ENST00000337532.5	-	11	1025	c.749A>G	c.(748-750)aAg>aGg	p.K250R	MPP7_ENST00000445954.2_Missense_Mutation_p.K125R|MPP7_ENST00000375719.3_Missense_Mutation_p.K250R|MPP7_ENST00000540098.1_Missense_Mutation_p.K250R|MPP7_ENST00000375732.1_Missense_Mutation_p.K250R	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	250	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCCAGCTTCCTTACATGGAAT	0.378000													38	49					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812807	38812807	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:38812807G>A	ENST00000449082.2	-	4	561	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	188					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTTCCAAGGATCTCTCAGG	0.443000													70	80					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100672490	100672490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:100672490G>A	ENST00000375119.3	-	4	894	c.818C>T	c.(817-819)cCa>cTa	p.P273L	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	273					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TGGGCAATATGGGCCAATTTG	0.473000													38	43					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48627937	48627937	+	Missense_Mutation	SNP	C	C	T	rs143391124	by1000genomes	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:48627937C>T	ENST00000328333.8	-	14	1968	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	COL7A1_ENST00000454817.1_Missense_Mutation_p.V621I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	621	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGGGACGGGTCCCCAG	0.602000													26	98					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29039061	29039061	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:29039061G>A	ENST00000334056.5	+	3	370	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SPDYA_ENST00000379579.4_Missense_Mutation_p.G61R|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	61					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACGCCCCAAAGGACCTTGTCT	0.318000													62	64					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768889	57768889	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:57768889C>T	ENST00000371030.2	+	1	2815	c.2815C>T	c.(2815-2817)Ccc>Tcc	p.P939S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	939						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTTTTCCCCCAAGTACCT	0.632000													34	108					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120770221	120770221	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:120770221G>A	ENST00000310396.5	+	12	1917	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	CPED1_ENST00000423795.1_Missense_Mutation_p.E264K|CPED1_ENST00000450913.2_Missense_Mutation_p.E484K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACTGATGCATGAATTTTATGA	0.353000													99	100					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730874	5730874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:5730874C>T	ENST00000379965.3	+	8	1770	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	498	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCACCGAGCTCCTGAGTGTTC	0.488000													61	57					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223726	44223726	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:44223726C>T	ENST00000244314.5	+	2	1215	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	339						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AACGAGGTCTCGCCTGAGACT	0.672000													14	38					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173830404	173830404	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:173830404C>T	ENST00000264111.6	+	9	997	c.810C>T	c.(808-810)ctC>ctT	p.L270L	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000535187.1_Silent_p.L51L|RAPGEF4_ENST00000538974.1_Silent_p.L100L|RAPGEF4_ENST00000539331.1_Silent_p.L118L|RAPGEF4_ENST00000409036.1_Silent_p.L271L|RAPGEF4_ENST00000397081.3_Silent_p.L271L|RAPGEF4_ENST00000397087.3_Silent_p.L127L|RAPGEF4_ENST00000540783.1_Silent_p.L118L			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	271	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGGTGTTCTCAACCACGGTA	0.493000													35	56					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730875	5730875	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:5730875C>T	ENST00000379965.3	+	8	1771	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	498	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CACCGAGCTCCTGAGTGTTCT	0.483000													61	58					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678752	186678752	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:186678752G>A	ENST00000343098.5	+	18	20575	c.20575G>A	c.(20575-20577)Gaa>Aaa	p.E6859K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6770K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCTTGGGAGGAAAAGCCCCA	0.448000													12	75					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373246	84373246	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:84373246C>T	ENST00000286744.5	+	3	399	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCACTTATCGCTATGATGA	0.453000													105	122					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180593	37180593	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:37180593C>T	ENST00000331299.5	-	7	1048	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	SLC25A21_ENST00000555449.1_Missense_Mutation_p.R178Q	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	178					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AACTCCATGTCGTCCCAAAGT	0.398000													22	50					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341740	121341740	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:121341740C>T	ENST00000338040.4	+	3	1878	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	488					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGATGAGTTCCCCCTGCACT	0.507000													27	34					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704942	38704942	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:38704942A>T	ENST00000359357.3	+	4	465	c.211A>T	c.(211-213)Aac>Tac	p.N71Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.N288Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.N71Y					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						TGCAACAAACAACTGGGGTGC	0.378000													35	99					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894606	78894606	+	Splice_Site	SNP	A	A	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:78894606A>T	ENST00000326828.5	-	5	762	c.377_splice	c.e5-1	p.N126_splice	CHRNA3_ENST00000348639.3_Splice_Site_p.N126_splice	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	126					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCCAACAGCACTGCAAAGAC	0.478000													20	20					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062335	144062335	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:144062335C>T	ENST00000056217.5	+	2	2747	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	858					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCCCAAAGTCCAGGGGGAGG	0.592000													30	183					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080389	193080389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:193080389C>T	ENST00000342358.4	-	4	539	c.422G>A	c.(421-423)tGg>tAg	p.W141*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	141					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGTCGTTCCAAACATACCT	0.458000													81	115					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48594769	48594769	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:48594769G>A	ENST00000323776.5	+	3	611	c.449G>A	c.(448-450)cGt>cAt	p.R150H	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R113H	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	113					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTTGTAGCACGTCCTGCGAAT	0.493000													35	116					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40870080	40870080	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:40870080G>A	ENST00000428826.2	-	10	1058	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	EZH1_ENST00000592743.1_Missense_Mutation_p.H313Y|EZH1_ENST00000435174.1_Missense_Mutation_p.H174Y|EZH1_ENST00000590078.1_Missense_Mutation_p.H243Y|EZH1_ENST00000415827.2_Missense_Mutation_p.H304Y|EZH1_ENST00000585893.1_Missense_Mutation_p.H273Y			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	313					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)		GGGGTGGCATGAAAAGCTGGA	0.398000													29	36					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664082	123664082	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:123664082G>A	ENST00000542236.1	+	3	1416	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	BBS12_ENST00000314218.3_Silent_p.V345V	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	345					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATAATCCTGTGATCAAGGAAT	0.398000									Bardet-Biedl syndrome				35	17					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41228858	41228858	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:41228858G>C	ENST00000249749.5	+	9	1949	c.1673G>C	c.(1672-1674)cGa>cCa	p.R558P		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	558					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCGGCTTCGACGGCCGGAC	0.627000													11	33					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183681340	183681340	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:183681340G>A	ENST00000334444.6	-	15	2308	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	ABCC5_ENST00000265586.6_Missense_Mutation_p.R690C	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	690	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCCTCTGGCGCTGCCCACCG	0.597000													21	90					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:134214955C>T	ENST00000535456.2	+	4	569	c.381C>T	c.(379-381)atC>atT	p.I127I	GLB1L2_ENST00000339772.7_Silent_p.I127I|GLB1L2_ENST00000389881.3_Silent_p.I127I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662000													6	23					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81298254	81298254	+	Missense_Mutation	SNP	C	C	T	rs147813781	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:81298254C>T	ENST00000258168.2	+	5	942	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	BCMO1_ENST00000425577.2_Missense_Mutation_p.R92C	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	161					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GGTTGATTATCGTAAATACGT	0.403000													24	55					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37948932	37948932	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:37948932G>A	ENST00000346872.3	-	4	479	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	IKZF3_ENST00000535189.1_Missense_Mutation_p.H106Y|IKZF3_ENST00000467757.1_Missense_Mutation_p.H140Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.H106Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.H140Y|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.H140Y	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	140					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTACCAGTATGGCTTCGCTTA	0.413000													64	83					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038245	75038245	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:75038245A>G	ENST00000326665.5	-	14	3367	c.3149T>C	c.(3148-3150)tTa>tCa	p.L1050S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1050	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTTGGGTAAAATTTCTTT	0.453000													141	123					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429029	42429029	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:42429029C>T	ENST00000053867.3	+	10	1107	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Missense_Mutation_p.P192S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	349					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGAGAAGGCCCCAGCTCACCT	0.597000													26	119					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264654	75264654	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:75264654C>T	ENST00000325680.7	+	5	2778	c.2654C>T	c.(2653-2655)tCc>tTc	p.S885F	YLPM1_ENST00000238571.3_Missense_Mutation_p.S690F|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	690	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGCATTTTCCATTGCTGCA	0.443000													28	17					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:159683618G>A	ENST00000255030.5	-	2	475	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000													219	177					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280104	73280104	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:73280104C>T	ENST00000320531.2	+	3	735	c.699C>T	c.(697-699)ccC>ccT	p.P233P		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	233						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGGTTGAACCCCAGGAGGTCT	0.592000													132	164					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667806	25667806	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:25667806G>A	ENST00000382051.3	+	5	486	c.436G>A	c.(436-438)Ggg>Agg	p.G146R	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G145R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G145R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	146					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCTTTGTTGGGGCTGGTGAT	0.498000			T	ROS1	NSCLC								33	93					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294939	29294939	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:29294939G>A	ENST00000331664.5	-	1	2188	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	730					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTTCTTGACGGATGTTCTGGT	0.552000													54	84					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20550739	20550739	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:20550739C>T	ENST00000504154.1	+	24	2729	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	SLIT2_ENST00000503837.1_Missense_Mutation_p.S822F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S818F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S830F|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	826					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGATTAAAGTCTCTTCGATTA	0.358000													23	23					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21453109	21453109	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:21453109G>A	ENST00000269217.6	+	1	306	c.101G>A	c.(100-102)aGg>aAg	p.R34K	LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000587184.1_Missense_Mutation_p.R34K|LAMA3_ENST00000313654.9_Intron	NM_000227.3	NP_000218.2	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCAGCAAAGGGTGCCATTT	0.542000													46	123					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80275358	80275358	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:80275358G>A	ENST00000584284.1	-	1	95	c.14C>T	c.(13-15)cCg>cTg	p.P5L	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.P5L|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	5					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGGAGCCTCGGAGGCCCGGC	0.687000													13	9					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160092582	160092582	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:160092582T>A	ENST00000409990.3	-	11	1649	c.1393A>T	c.(1393-1395)Atg>Ttg	p.M465L	WDSUB1_ENST00000359774.4_Missense_Mutation_p.M465L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.M465L|WDSUB1_ENST00000409124.1_Missense_Mutation_p.M418L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.M373L	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	465	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTGATGGCCATTTTCAGAGTC	0.343000													27	40					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076436	87076436	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:87076436C>T	ENST00000276616.2	-	2	684	c.610G>A	c.(610-612)Gat>Aat	p.D204N	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	204	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAACCAAAATCTGTAATTAAA	0.413000													69	66					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38182010	38182010	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:38182010C>T	ENST00000417037.2	+	3	818	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	MYD88_ENST00000443433.2_Intron|MYD88_ENST00000424893.1_Silent_p.L167L|MYD88_ENST00000396334.3_Silent_p.L212L|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_Intron	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	199	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCGCGATGTCCTGCCTGGCAC	0.552000			Mis		ABC-DLBCL								30	133					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23938228	23938228	+	Splice_Site	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:23938228C>A	ENST00000402377.3	-	2	270	c.130_splice	c.e2+1	p.L43_splice	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCCTCACCCAAGAAGACCA	0.343000													50	114					3.76525e-18	3.84162e-18	1	1	0
EGFL7	51162	broad.mit.edu	37	9	139562789	139562789	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:139562789G>A	ENST00000371699.1	+	3	966	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	EGFL7_ENST00000406555.3_Missense_Mutation_p.G19S|EGFL7_ENST00000371698.3_Missense_Mutation_p.G19S|EGFL7_ENST00000308874.7_Missense_Mutation_p.G19S|EGFL7_ENST00000492002.1_Intron			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	19					angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGCAGTGGGCGGCACAGAGCA	0.701000													5	6					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375546	93375546	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:93375546C>T	ENST00000375765.3	-	2	952	c.564G>A	c.(562-564)agG>agA	p.R188R		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	188					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GCTTCTCTTTCCTTTTCTGCT	0.557000													16	33					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34761848	34761848	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:34761848C>T	ENST00000338074.2	+	2	310	c.149C>T	c.(148-150)tCc>tTc	p.S50F	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S50F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	50					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGCATCCATCCCAGCAGGAC	0.662000													10	19					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136729061	136729061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:136729061C>T	ENST00000329582.4	+	7	1181	c.932C>T	c.(931-933)tCa>tTa	p.S311L	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	311						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGGATCTCATAGGTTTGC	0.547000													47	43					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504668	157504668	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:157504668G>A	ENST00000361835.3	-	8	1574	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	FCRL5_ENST00000356953.4_Missense_Mutation_p.P473S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P473S|FCRL5_ENST00000368189.3_Missense_Mutation_p.P473S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P388S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	473	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTGAGGACAGGATGAGACACA	0.498000													21	69					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84806789	84806789	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:84806789G>A	ENST00000389394.3	+	14	2352	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E739K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E739K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	739	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCTTGATGAAATTCAGGA	0.358000													16	63					0	0	1	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847003	32847003	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:32847003C>T	ENST00000420261.1	-	0	622																											CTATGAACTTCGTGATTTATT	0.368000													6	9					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448000													24	40					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458221	120458221	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:120458221G>A	ENST00000256646.2	-	34	7343	c.7124C>T	c.(7123-7125)cCt>cTt	p.P2375L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2375					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGGGAAAGGATGATAGGC	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				68	111					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308857	31308857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:31308857C>T	ENST00000544665.3	+	13	1450	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S460F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	460					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCGGGGCCTCCCTCTGCTCC	0.597000													69	145					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584448	1584448	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:1584448G>A	ENST00000381297.4	-	2	1214	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	335						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)				ACCGGCCTCGGAGCGCACGGA	0.701000			T	CRLF2	"""B-ALL, Downs associated ALL"""								50	76					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370320	35370320	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:35370320G>A	ENST00000373347.1	-	3	933	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S222F			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	222					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				gtggtgatggGAGGTGTGGGG	0.677000													54	69					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705804	77705804	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:77705804G>A	ENST00000298351.4	+	11	919	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	259						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTGCTACGACGTCAGGAACCT	0.627000													25	49					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462714	21462714	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:21462714G>T	ENST00000281523.2	-	8	1698	c.1180C>A	c.(1180-1182)Cct>Act	p.P394T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	394						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTAGTAAGGAGCAAACAGC	0.438000													17	41					1.56452e-12	1.58023e-12	1	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773744	35773744	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:35773744C>T	ENST00000360215.1	+	1	674	c.297C>T	c.(295-297)ttC>ttT	p.F99F	LHFPL5_ENST00000373853.1_Silent_p.F99F	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	99						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTGCCATGTTCTTTGTGGCCT	0.542000													94	112					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267855	7267855	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:7267855C>A	ENST00000341500.5	-	2	192	c.153G>T	c.(151-153)gaG>gaT	p.E51D	INSR_ENST00000302850.5_Missense_Mutation_p.E51D	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	51					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGAGCAATTCTCCAGCTCAT	0.483000													4	29					0.00909568	0.0091138	1	1	0
ADH1C	126	broad.mit.edu	37	4	100260747	100260747	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:100260747G>A	ENST00000515683.1	-	0	1441					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTCCAGAGCGAAGCAGGTCA	0.388000													19	34					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412023	33412023	+	Silent	SNP	C	C	T	rs113801394		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:33412023C>T	ENST00000404816.2	+	6	1655	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	LTBP1_ENST00000390003.4_Silent_p.V108V|LTBP1_ENST00000404525.1_Silent_p.V108V|LTBP1_ENST00000402934.1_Silent_p.V108V|LTBP1_ENST00000418533.2_Silent_p.V108V|LTBP1_ENST00000407925.1_Silent_p.V108V|LTBP1_ENST00000354476.3_Silent_p.V434V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	434					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATCCCAGTCCATGGTGCCA	0.498000													40	37					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670572	8670572	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:8670572G>A	ENST00000270328.4	-	2	290	c.24C>T	c.(22-24)ctC>ctT	p.L8L	ADAMTS10_ENST00000597188.1_Silent_p.L8L|ADAMTS10_ENST00000596709.1_Intron			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	8					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGCCCAGCGGAGGATCTGGC	0.697000													16	14					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130985118	130985118	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:130985118T>C	ENST00000341179.7	+	9	1267	c.1175T>C	c.(1174-1176)aTc>aCc	p.I392T	DNM1_ENST00000393594.3_Missense_Mutation_p.I392T|DNM1_ENST00000372923.3_Missense_Mutation_p.I392T|DNM1_ENST00000486160.1_Missense_Mutation_p.I392T|DNM1_ENST00000475805.1_Missense_Mutation_p.I392T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	392					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGCTATGCTATCAAGAATATC	0.532000													27	39					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174475	75174475	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:75174475G>A	ENST00000336926.6	-	26	2597	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	HIP1_ENST00000434438.2_Silent_p.S806S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	857	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTCTTTAGGGGATGCTGTAC	0.418000			T	PDGFRB	CMML								80	99					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752130	141752130	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:141752130G>A	ENST00000475668.2	+	25	2896	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K	MGAM_ENST00000549489.2_Missense_Mutation_p.E948K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	948					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTCCTGGGAGAAGCATACAC	0.433000													15	16					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810155	144810155	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:144810155G>A	ENST00000388913.3	-	5	1601	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	492					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCCCGGCGCCCAGGGTGA	0.761000													3	16					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768890	57768890	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:57768890C>T	ENST00000371030.2	+	1	2816	c.2816C>T	c.(2815-2817)cCc>cTc	p.P939L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	939						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCTTTTCCCCCAAGTACCTC	0.637000													34	111					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35189779	35189779	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:35189779G>A	ENST00000156471.5	-	21	2596	c.2371C>T	c.(2371-2373)Cct>Tct	p.P791S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	791						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)		TGATTATAAGGATAAGGACCC	0.353000													16	68					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103832	53103832	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:53103832G>A	ENST00000408890.4	+	1	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731000													26	37					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70048381	70048381	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:70048381G>A	ENST00000358769.2	-	8	752	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Silent_p.L151L|PBLD_ENST00000309049.4_Silent_p.L184L|PBLD_ENST00000432941.1_Silent_p.L184L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	184					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACTTGCAGCAGATTCTCCGTG	0.453000													22	24					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37101346	37101346	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:37101346C>T	ENST00000378079.2	-	7	859	c.660G>A	c.(658-660)agG>agA	p.R220R		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	220										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGAGGACATTCCTACAGAAGA	0.398000													41	54					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065218	35065218	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:35065218G>A	ENST00000382002.5	-	10	2268	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.P513P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Silent_p.P513P|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	614					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAAAACATGCGGGATCCAGGT	0.438000													15	28					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81706400	81706400	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:81706400G>A	ENST00000372292.3	-	2	56	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	6					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGTGCAGAGAGGAGGAAGAGC	0.527000													7	14					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238267869	238267869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:238267869C>T	ENST00000295550.4	-	19	6786	c.6334G>A	c.(6334-6336)Gat>Aat	p.D2112N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D1911N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1912N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1505N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1906N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1906N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2112	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D2112H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGACCATCCAGTCCAATT	0.408000													37	103					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276734	152276734	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:152276734C>T	ENST00000368799.1	-	3	10663	c.10628G>A	c.(10627-10629)aGt>aAt	p.S3543N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3543	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTGTCACTGTCCTGGCT	0.577000									Ichthyosis				365	277					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564892	136564892	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:136564892C>T	ENST00000264162.2	-	9	3989	c.3979G>A	c.(3979-3981)Ggc>Agc	p.G1327S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1327	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCGTGTAGCCATTTAGCCAC	0.517000													67	100					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4218134	4218134	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:4218134C>T	ENST00000404826.2	+	35	5153	c.5014C>T	c.(5014-5016)Cgc>Tgc	p.R1672C	SDK1_ENST00000389531.3_Missense_Mutation_p.R1652C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1672	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAAGTACCGGCGCTATGAAGT	0.527000													67	361					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17609361	17609361	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:17609361G>A	ENST00000375460.3	+	16	1822	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	594					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGTGCTGGGGAAGCACCTGG	0.617000													11	41					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009792	201009792	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:201009792C>T	ENST00000362061.3	-	42	5410	c.5184G>A	c.(5182-5184)caG>caA	p.Q1728Q	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.Q1709Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1728					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCATTGCCCTCTGGGTCAGCA	0.607000													16	99					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52610544	52610544	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:52610544C>T	ENST00000373995.3	-	3	262	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000373993.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.1_Intron	NM_138933.2	NP_620311.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CACACTGCTTCCATCTATAGG	0.413000													37	40					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41663504	41663504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:41663504G>A	ENST00000313860.7	+	14	2003	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	LIMCH1_ENST00000513024.1_Missense_Mutation_p.G479E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G638E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G491E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1035E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G484E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G484E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G496E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G491E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	650					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCAAGAAAAGGGAATATAGAA	0.348000											OREG0016170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	14					0	0	1	0	0
BANF1	8815	broad.mit.edu	37	11	65771195	65771195	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:65771195C>T	ENST00000312175.2	+	3	730	c.222C>T	c.(220-222)tcC>tcT	p.S74S	BANF1_ENST00000527348.1_Silent_p.S74S|BANF1_ENST00000524628.1_3'UTR|BANF1_ENST00000445560.2_Silent_p.S74S|BANF1_ENST00000533166.1_Silent_p.S74S	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	74					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						CCAAGCAGTCCCGGGACTGCT	0.557000													55	50					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884476	64884476	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:64884476T>C	ENST00000310597.4	-	1	694	c.650A>G	c.(649-651)aAt>aGt	p.N217S		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	217							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GAACAGCACATTGGGCAGCTG	0.682000													9	10					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15917942	15917942	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:15917942C>T	ENST00000334920.2	-	1	994	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTCTTCTTCATGGCGACCT	0.458000													19	77					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682721	122682721	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:122682721G>A	ENST00000337677.5	-	5	742	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	TMEM155_ENST00000394394.1_Missense_Mutation_p.R62C|TMEM155_ENST00000394396.1_Missense_Mutation_p.R62C	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	62						extracellular region				breast(1)|lung(5)	6						CCCTGCAAGCGAACCAAAAAC	0.378000													20	42					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031122	79031122	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:79031122C>T	ENST00000446378.2	+	2	6565	c.6534C>T	c.(6532-6534)ttC>ttT	p.F2178F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2178						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTCATCTTTCAAATCGTGGA	0.453000													44	4					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435897	158435897	+	Silent	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:158435897C>A	ENST00000289451.2	+	1	626	c.546C>A	c.(544-546)tcC>tcA	p.S182S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTGACATCTCCCCTGTCCTTA	0.512000													89	217					2.18974e-44	2.24326e-44	1	1	0
PRTG	283659	broad.mit.edu	37	15	55912454	55912454	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:55912454C>T	ENST00000389286.4	-	20	3256	c.3209G>A	c.(3208-3210)aGa>aAa	p.R1070K		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1070					multicellular organismal development	integral to membrane		p.R1070K(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGAGTAAATCTTCTTTGAGG	0.488000													48	51					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008980	56008980	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:56008980G>A	ENST00000456986.1	+	15	1565	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	NEDD4L_ENST00000356462.6_Missense_Mutation_p.R379Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R302Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R443Q|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R302Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R435Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R302Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R415Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R322Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R423Q	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	443					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CAGATCCGCCGGCCTCGTAGC	0.522000													18	17					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534849	26534849	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:26534849G>A	ENST00000333478.6	-	8	1732	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	GPR113_ENST00000421160.2_Missense_Mutation_p.L514F|GPR113_ENST00000541401.1_Missense_Mutation_p.L186F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L583F	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	583					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L384F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGCAGGAGAGTCGAGCCT	0.612000													42	54					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49028420	49028420	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:49028420G>A	ENST00000376327.5	+	1	148	c.73G>A	c.(73-75)Gga>Aga	p.G25R	PLP2_ENST00000376322.3_Missense_Mutation_p.G25R	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	25	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CACTCGAAAGGGAATCCTCCT	0.647000													20	3					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738729	138738729	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:138738729G>A	ENST00000329447.5	-	1	1039	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	259										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCGTCTCCGGGCCTTGCAC	0.662000													7	54					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139737659	139737659	+	Missense_Mutation	SNP	G	G	A	rs76179240		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:139737659G>A	ENST00000303045.6	-	24	2610	c.2164C>T	c.(2164-2166)Cca>Tca	p.P722S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P722S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	722	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGGCCTGGGACACCAGGG	0.582000										HNSCC(7;0.00092)			66	95					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420614	11420614	+	RNA	SNP	C	C	T	rs71057717		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:11420614C>T	ENST00000381842.3	-	0	606				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.G190E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.642000													100	293					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18630843	18630843	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:18630843G>A	ENST00000449552.2	+	0	1457				TRIM16L_ENST00000414850.2_De_novo_Start_InFrame|TRIM16L_ENST00000571708.1_De_novo_Start_InFrame|TRIM16L_ENST00000395902.3_Silent_p.S45S|TRIM16L_ENST00000395671.4_De_novo_Start_InFrame|TRIM16L_ENST00000395672.2_De_novo_Start_InFrame|TRIM16L_ENST00000572555.1_De_novo_Start_InFrame			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like							cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCCAGGTGTCGGTGTCAGAGG	0.512000													9	59					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	419761	419761	+	RNA	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:419761A>G	ENST00000451020.2	-	0	1277					NR_002451.2																						TCCACAGGTAACTTACATGCC	0.468000													9	27					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75887458	75887458	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:75887458C>T	ENST00000322507.8	-	12	2667	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T786T|COL12A1_ENST00000483888.2_Silent_p.T786T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	786	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTCATATTTCGTGTCTGGAA	0.423000													185	45					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354817	4354817	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:4354817G>A	ENST00000358065.4	+	2	459	c.392G>A	c.(391-393)aGa>aAa	p.R131K	SETMAR_ENST00000430981.1_Missense_Mutation_p.R131K|SETMAR_ENST00000425863.1_Missense_Mutation_p.R131K|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	118	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TGCAGAAACAGAGTGGTCCAG	0.448000								Chromatin Structure					11	46					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713832	143713832	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:143713832C>T	ENST00000264170.4	+	6	754	c.496C>T	c.(496-498)Cct>Tct	p.P166S	KYNU_ENST00000375773.2_Missense_Mutation_p.P166S|KYNU_ENST00000409512.1_Missense_Mutation_p.P166S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAAGCCTTCCCTTCTGATCA	0.338000													13	62					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724837	49724837	+	Missense_Mutation	SNP	G	G	A	rs41291712		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:49724837G>A	ENST00000449682.2	-	4	791	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.P69S	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	130	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTGGCAGGGCAGGCCACCC	0.587000													4	124					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75269378	75269378	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:75269378C>T	ENST00000325680.7	+	6	4644	c.4521_splice	c.e6+1	p.P1507_splice	YLPM1_ENST00000238571.3_Splice_Site_p.P1312_splice|YLPM1_ENST00000552421.1_Splice_Site_p.P801_splice	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1312	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAATGTATCCGGTATGGGAG	0.373000													4	41					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529302	40529302	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:40529302G>A	ENST00000447116.2	+	6	1728	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	ZNF619_ENST00000456778.1_Missense_Mutation_p.G390E|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.G425E|ZNF619_ENST00000314686.5_Missense_Mutation_p.G418E|ZNF619_ENST00000432264.2_Missense_Mutation_p.G434E|ZNF619_ENST00000521353.1_Missense_Mutation_p.G474E|ZNF619_ENST00000429348.2_Missense_Mutation_p.G434E	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	474					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGGAATGTGGGAAGACATTC	0.458000													34	84					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747781	116747781	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:116747781C>T	ENST00000331677.3	+	4	905	c.461C>T	c.(460-462)tCc>tTc	p.S154F	DSE_ENST00000452085.3_Missense_Mutation_p.S154F|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.S154F|DSE_ENST00000537543.1_Missense_Mutation_p.S173F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTTGCTCACTCCCTGGTTGGT	0.453000													24	41					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22029902	22029902	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:22029902C>T	ENST00000284202.4	+	10	1020	c.879C>T	c.(877-879)aaC>aaT	p.N293N		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	293										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGGAAAAGAACTACACAAATT	0.388000													26	85					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80430571	80430571	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:80430571C>G	ENST00000390006.4	+	5	814	c.340C>G	c.(340-342)Cct>Gct	p.P114A	NARF_ENST00000345415.7_Missense_Mutation_p.P125A|NARF_ENST00000457415.3_Missense_Mutation_p.P173A|NARF_ENST00000309794.10_Missense_Mutation_p.P173A|NARF_ENST00000412079.2_Intron|NARF_ENST00000581743.1_3'UTR	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	173						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCTGCCTGTCCTGGTGAGCC	0.562000													30	52					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515463	195515463	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:195515463G>A	ENST00000463781.3	-	2	3447	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1001	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T996T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCATCGGTGACATGAA	0.582000													3	16					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	313842	313842	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:313842G>A	ENST00000428720.1	-	4	980	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.F79F|SLC6A12_ENST00000397296.2_Silent_p.F79F|SLC6A12_ENST00000359674.4_Silent_p.F79F|SLC6A12_ENST00000424061.2_Silent_p.F79F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	79					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGAAGAAGATGAAGTAGGGGA	0.592000													29	25					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183388985	183388985	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:183388985C>T	ENST00000454652.1	+	7	1774	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	KLHL24_ENST00000242810.6_Missense_Mutation_p.P463L|KLHL24_ENST00000476808.1_Missense_Mutation_p.P463L			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	463						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGTGGAGGACCTGATGATAAT	0.403000													31	154					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10051647	10051647	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:10051647T>C	ENST00000263663.5	+	11	1329	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	TAF1B_ENST00000396242.3_Missense_Mutation_p.S126P	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	381					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGGTCTTTGTCTAATCTTGC	0.264000													3	45					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434220	49434220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:49434220G>A	ENST00000301067.7	-	31	7332	c.7333C>T	c.(7333-7335)Cag>Tag	p.Q2445*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAGGGGACTGGAAGCGAGGG	0.627000													21	32					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732594	732594	+	Silent	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:732594T>C	ENST00000382303.1	+	10	3874	c.3222T>C	c.(3220-3222)ccT>ccC	p.P1074P	KANK1_ENST00000382293.3_Silent_p.P916P|KANK1_ENST00000382297.2_Silent_p.P1074P|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1074					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATGTGAACCTGAGAAGGTGG	0.483000													38	46					0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1263011	1263011	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:1263011C>T	ENST00000343938.4	+	3	924	c.513C>T	c.(511-513)ttC>ttT	p.F171F	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	171						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-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;0.199)		GCGAGGTCTTCCTGGAGGCCA	0.687000													22	51					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549725	187549725	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:187549725G>A	ENST00000441802.2	-	8	4725	c.4516C>T	c.(4516-4518)Cgt>Tgt	p.R1506C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1506	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCAAGACGAAATTTCTTG	0.463000										HNSCC(5;0.00058)			40	27					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443679	17443679	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:17443679G>A	ENST00000458468.1	+	0	273					NR_027790.1																						GGCCATGCTCGAAGCCAGCTC	0.483000													13	24					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102987	50102987	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:50102987C>T	ENST00000418929.2	+	5	4149	c.4137C>T	c.(4135-4137)tcC>tcT	p.S1379S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	558							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGCTGCCCTCCTTCTCCTCGG	0.632000													44	81					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54793713	54793713	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:54793713G>A	ENST00000293379.4	-	26	2923	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	888					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGGTGCAGGGAACCCTCG	0.537000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	68					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2111908	2111908	+	Missense_Mutation	SNP	G	G	A	rs137854007		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:2111908G>A	ENST00000219476.3	+	12	1786	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	TSC2_ENST00000350773.4_Missense_Mutation_p.D386N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	386	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCGTCCATGACCTGTTGAC	0.587000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				50	31					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225703	9225703	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:9225703G>A	ENST00000293614.1	-	1	736	c.737C>T	c.(736-738)tCt>tTt	p.S246F	OR7G1_ENST00000541538.1_Missense_Mutation_p.S246F			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGAAAAAACAGAGAGGTGACA	0.428000													19	57					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107076868	107076868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:107076868C>T	ENST00000539449.1	-	1	505	c.29G>A	c.(28-30)aGa>aAa	p.R10K	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.R10K			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	10						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TGCATTTCTTCTAAGTACACA	0.423000													38	7					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134265	119134265	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:119134265G>A	ENST00000264245.4	+	12	4021	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1163					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGACCCCCAGGACCTGGACA	0.547000													15	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179658157	179658157	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:179658157C>T	ENST00000589042.1	-	9	1734	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	TTN_ENST00000342992.6_Missense_Mutation_p.E504K|TTN_ENST00000460472.2_Missense_Mutation_p.E504K|TTN_ENST00000591111.1_Missense_Mutation_p.E504K|TTN_ENST00000359218.5_Missense_Mutation_p.E504K|TTN_ENST00000342175.6_Missense_Mutation_p.E504K|TTN_ENST00000360870.5_Missense_Mutation_p.E504K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	504							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)			TGCATCTGCTCTTGCTTTGTG	0.408000													72	122					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421297	8421297	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:8421297C>T	ENST00000337907.3	-	19	2904	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	RERE_ENST00000476556.1_Missense_Mutation_p.G203E|RERE_ENST00000400908.2_Missense_Mutation_p.G757E|RERE_ENST00000377464.1_Missense_Mutation_p.G489E|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	757	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGAGGGGTCCCTGGAGGAGC	0.711000													9	40					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101847707	101847707	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:101847707C>T	ENST00000360264.3	+	19	2997	c.2977C>T	c.(2977-2979)Ctg>Ttg	p.L993L	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Silent_p.L982L|CUX1_ENST00000549414.2_Silent_p.L960L|CUX1_ENST00000546411.2_Silent_p.L880L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.L824L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.L926L|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	982					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCGACATGCTGTCCCGACC	0.612000													4	162					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179509338	179509338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:179509338G>A	ENST00000589042.1	-	218	40638	c.40414C>T	c.(40414-40416)Cca>Tca	p.P13472S	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10904S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11831S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000418062.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11831	Ig-like 90.						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)			TTCTTCTTTGGAATAGCTTTA	0.318000													5	13					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427573	37427573	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:37427573G>A	ENST00000379826.4	-	6	1585	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	SMAD9_ENST00000399275.2_Missense_Mutation_p.R415W|SMAD9_ENST00000350148.5_Missense_Mutation_p.R378W	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	415	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AAACTCATCCGGATAGTACAC	0.453000													30	60					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94156486	94156486	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:94156486C>T	ENST00000297273.4	+	4	651	c.364C>T	c.(364-366)Cct>Tct	p.P122S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	122						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGAAAACATTCCTTTTGAAGA	0.279000													39	145					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557668	149557668	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:149557668C>T	ENST00000223210.4	+	7	1664	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TTGGGCAGTTCCCATGGTTAG	0.478000													34	179					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516076	1516076	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:1516076G>A	ENST00000389470.4	-	39	5778	c.5779C>T	c.(5779-5781)Ctg>Ttg	p.L1927L	INTS1_ENST00000404767.3_Silent_p.L1723L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1723					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCAGCACCAGCTCCTCCCGC	0.721000													4	17					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151442	247151442	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:247151442C>T	ENST00000339986.7	-	4	522	c.375G>A	c.(373-375)agG>agA	p.R125R	ZNF695_ENST00000487338.2_Silent_p.R125R|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	125					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCCAGTCATTCCTTAAGCGTA	0.408000													205	176					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40483543	40483543	+	Silent	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:40483543C>A	ENST00000264657.5	-	11	1368	c.1056G>T	c.(1054-1056)ctG>ctT	p.L352L	STAT3_ENST00000389272.3_Silent_p.L254L|STAT3_ENST00000588969.1_Silent_p.L352L|STAT3_ENST00000585517.1_Silent_p.L352L|STAT3_ENST00000404395.3_Silent_p.L352L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	352					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGAATTTGACCAGCAACCTAT	0.303000									Hyperimmunoglobulin E Recurrent Infection Syndrome				9	42					0.00621372	0.00623852	1	1	0
PPIAL4G	644591	broad.mit.edu	37	1	143767520	143767520	+	Missense_Mutation	SNP	G	G	A	rs66906173		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:143767520G>A	ENST00000419275.1	-	1	361	c.329C>T	c.(328-330)tCc>tTc	p.S110F		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	110	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GAAAAACTGGGAACCATTTGT	0.473000													14	405					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151946	134151946	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:134151946C>T	ENST00000389887.5	+	5	2955	c.459C>T	c.(457-459)atC>atT	p.I153I	GLB1L3_ENST00000431683.2_Silent_p.I153I			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	153					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGCAGAGATCGGGCTGTGGG	0.657000													12	4					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103964482	103964482	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:103964482G>A	ENST00000394785.3	-	9	1748	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	SLC9B2_ENST00000339611.4_Missense_Mutation_p.L373F|SLC9B2_ENST00000503230.1_Missense_Mutation_p.L316F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L373F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.L316F	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	373					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATGCCTGCAAGGAAAGCCATG	0.443000													11	34					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409727	22409727	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:22409727G>A	ENST00000390441.2	+	0	273																											CACGAAGGCTGATGACAAGGG	0.473000													31	62					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46832646	46832646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:46832646G>A	ENST00000529230.1	-	5	587	c.541C>T	c.(541-543)Cga>Tga	p.R181*	CKAP5_ENST00000415402.1_Nonsense_Mutation_p.R181*|CKAP5_ENST00000354558.3_Nonsense_Mutation_p.R181*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.R181*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	181					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						GCTTCATCTCGAACAGCCTTC	0.388000													41	38					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672611	113672611	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:113672611C>T	ENST00000330212.3	+	3	525	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.R70C	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	76						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AATTTCTGATCGCCTCCGAAT	0.453000													63	98					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156716	111156716	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:111156716C>T	ENST00000280325.4	+	4	795	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	216										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATGACCCTTCCCCTTGGGTGA	0.537000													60	4					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941718	5941718	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:5941718G>A	ENST00000356134.5	-	6	747	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	ANO2_ENST00000327087.8_Silent_p.L225L|ANO2_ENST00000546188.1_Silent_p.L226L	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	230						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTTCTGCAGAGCCGCGCTG	0.522000													48	44					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	369855	369855	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:369855C>T	ENST00000256509.2	+	5	845	c.203C>T	c.(202-204)tCg>tTg	p.S68L	CHL1_ENST00000397491.2_Missense_Mutation_p.S68L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	68	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S68L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGATTTTCGTGGACTAAG	0.338000													61	71					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128061	233128061	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:233128061G>A	ENST00000325385.7	+	13	1846	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	DIS3L2_ENST00000409307.1_Missense_Mutation_p.E524K|DIS3L2_ENST00000273009.6_Missense_Mutation_p.E524K	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	524							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TAGCAGCGAGGAGGTACACCA	0.542000													45	58					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414070	1414070	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:1414070C>T	ENST00000446702.2	+	13	2207	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	CNTN6_ENST00000539053.1_Missense_Mutation_p.P455L|CNTN6_ENST00000350110.2_Missense_Mutation_p.P527L			Q9UQ52	CNTN6_HUMAN	contactin 6	527	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCCATGACCCCTCCATTGAA	0.418000													55	54					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47098764	47098764	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:47098764C>G	ENST00000377107.2	+	3	655	c.301C>G	c.(301-303)Cgc>Ggc	p.R101G	USP11_ENST00000218348.3_Missense_Mutation_p.R144G			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	144	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATAAACTGGCGCCTCAAGGA	0.572000													17	0					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6266120	6266120	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:6266120G>T	ENST00000379775.4	+	13	1615	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	PFKFB3_ENST00000379782.3_Missense_Mutation_p.V429L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.V429L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.V409L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.V443L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.V429L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.V429L|PFKFB3_ENST00000536985.1_Intron	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	429	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGGCTGCCGTGTGGAATCCAT	0.607000													22	37					5.45024e-15	5.52716e-15	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156884457	156884457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:156884457C>T	ENST00000338302.3	+	24	3206	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	PEAR1_ENST00000292357.7_Missense_Mutation_p.S994F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	994	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGTGGGCTCCCAGCCCCCT	0.612000													106	87					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979121	20979121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:20979121G>A	ENST00000430083.1	+	2	979	c.575G>A	c.(574-576)gGa>gAa	p.G192E	RNASE10_ENST00000328444.5_Missense_Mutation_p.G164E			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	164						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.G164E(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAAGGGGGGAAAATGTCAC	0.458000													13	38					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953845	10953845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:10953845G>A	ENST00000254488.2	+	7	1028	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	321					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)		ACCGCTCTGGGAAGTTATAAC	0.507000													79	90					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37002746	37002746	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:37002746G>A	ENST00000358127.4	-	5	577	c.503C>T	c.(502-504)tCc>tTc	p.S168F	PAX5_ENST00000377853.2_Missense_Mutation_p.S168F|PAX5_ENST00000446742.1_Missense_Mutation_p.S102F|PAX5_ENST00000523241.1_Missense_Mutation_p.S168F|PAX5_ENST00000377852.2_Missense_Mutation_p.S168F|PAX5_ENST00000377847.2_Missense_Mutation_p.S168F|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.S60F|PAX5_ENST00000523145.1_Missense_Mutation_p.S60F|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520154.1_Missense_Mutation_p.S168F|PAX5_ENST00000414447.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	168					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GCTCACCGAGGACACCTGCGT	0.677000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								5	8					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480126	120480126	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:120480126A>G	ENST00000222747.3	-	3	711	c.104T>C	c.(103-105)aTg>aCg	p.M35T	TSPAN12_ENST00000415871.1_Missense_Mutation_p.M35T	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	35					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GTAGTCCCTCATCCAAGCAGA	0.353000													64	52					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384787	58384787	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:58384787T>A	ENST00000435989.2	-	3	2205	c.1971A>T	c.(1969-1971)gaA>gaT	p.E657D	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	657					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TAAAAGGTCTTTCTGTAGTGT	0.423000													15	20					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549392	56549392	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:56549392C>T	ENST00000390649.3	+	10	2617	c.2615_splice	c.e10-1	p.L873_splice		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	873						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCTGCAGGCTGGATTGCTG	0.557000													33	14					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173721	104173721	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:104173721G>A	ENST00000020673.5	-	5	1884	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	PSD_ENST00000406432.1_Missense_Mutation_p.P453L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	453	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGTGGGTCGGGCCGGGGTGC	0.652000													15	23					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085442	10085442	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:10085442C>T	ENST00000380861.4	+	11	1734	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	WWC3_ENST00000454666.1_Missense_Mutation_p.S448F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	448	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACGCCCCAGTCCCTGGCATCG	0.687000													43	9					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114903697	114903697	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:114903697C>T	ENST00000545257.1	+	7	1208	c.701C>T	c.(700-702)cCg>cTg	p.P234L	TCF7L2_ENST00000349937.2_Missense_Mutation_p.P234L|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P211L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P211L|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P234L|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P258L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P259L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P234L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	234	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCACGGCCTCCGCACCCTCCA	0.527000			T	VTI1A	colorectal								16	27					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564319	57564319	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:57564319G>A	ENST00000524630.1	+	6	1324	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CTNND1_ENST00000534579.1_Missense_Mutation_p.D217N|CTNND1_ENST00000528621.1_Missense_Mutation_p.D217N|CTNND1_ENST00000532844.1_Missense_Mutation_p.D217N|CTNND1_ENST00000529919.1_Missense_Mutation_p.D271N|CTNND1_ENST00000532245.1_Missense_Mutation_p.D170N|CTNND1_ENST00000526357.1_Missense_Mutation_p.D217N|CTNND1_ENST00000361332.4_Missense_Mutation_p.D271N|CTNND1_ENST00000428599.2_Missense_Mutation_p.D271N|CTNND1_ENST00000415361.2_Missense_Mutation_p.D170N|CTNND1_ENST00000528232.1_Missense_Mutation_p.D170N|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.D271N|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Missense_Mutation_p.D170N|CTNND1_ENST00000532649.1_Missense_Mutation_p.D217N|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Missense_Mutation_p.D170N|CTNND1_ENST00000361796.4_Missense_Mutation_p.D271N|CTNND1_ENST00000361391.6_Missense_Mutation_p.D271N|CTNND1_ENST00000530748.1_Missense_Mutation_p.D217N|CTNND1_ENST00000529873.1_Missense_Mutation_p.D217N|CTNND1_ENST00000530094.1_Missense_Mutation_p.D170N|CTNND1_ENST00000426142.2_Missense_Mutation_p.D170N|CTNND1_ENST00000399050.4_Missense_Mutation_p.D271N|CTNND1_ENST00000399039.4_Missense_Mutation_p.D271N|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.D271N|CTNND1_ENST00000532787.1_Missense_Mutation_p.D170N|CTNND1_ENST00000529526.1_Missense_Mutation_p.D217N|CTNND1_ENST00000526938.1_Missense_Mutation_p.D271N			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	271					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAGCAGCGTGGATCTGCATCG	0.547000													62	244					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118223	93118223	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:93118223C>T	ENST00000216487.7	+	6	988	c.829C>T	c.(829-831)Cca>Tca	p.P277S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	277	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CAGGTGGGCCCCACGccgccc	0.726000													36	51					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846141	18846141	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:18846141G>A	ENST00000412938.1	+	0	3499																											AGGGCACCTTGGACCTCTCTC	0.622000													6	31					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431368	110431368	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:110431368G>A	ENST00000378402.5	+	22	2507	c.2403G>A	c.(2401-2403)acG>acA	p.T801T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	801					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTAAGAACGAAATACACTG	0.373000										HNSCC(38;0.096)			32	41					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23782474	23782474	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:23782474A>G	ENST00000336689.3	-	3	292	c.248T>C	c.(247-249)tTa>tCa	p.L83S	ASAP3_ENST00000437606.2_Missense_Mutation_p.L83S	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	83					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCTGTTGCCTAAGGATTCCAC	0.587000													89	130					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													3	36					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230315	140230315	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:140230315G>A	ENST00000378122.3	+	1	2959	c.2235G>A	c.(2233-2235)gtG>gtA	p.V745V	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V745V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGCGCGGTGGGGAGTTGGT	0.647000													65	19					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328397	61328397	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:61328397C>T	ENST00000283752.5	-	2	197	c.54G>A	c.(52-54)caG>caA	p.Q18Q	SERPINB3_ENST00000332821.8_Silent_p.Q18Q|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	18					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATTTTCTGAACTGTTGGAACA	0.438000													100	156					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75269376	75269376	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:75269376T>A	ENST00000325680.7	+	6	4642	c.4518T>A	c.(4516-4518)taT>taA	p.Y1506*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Y1311*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Y800*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1311	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGGAATGTATCCGGTATGGG	0.363000													4	40					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102882	61102882	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:61102882G>A	ENST00000196169.3	+	11	2032	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	TDRD3_ENST00000535286.1_Missense_Mutation_p.G508E|TDRD3_ENST00000377881.2_Missense_Mutation_p.G415E|TDRD3_ENST00000377894.2_Missense_Mutation_p.G415E	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	415					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGCAGATCAGGAAAAGGTCCC	0.358000													29	117					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732749	152732749	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:152732749C>T	ENST00000368773.1	+	2	743	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	KPRP_ENST00000606109.1_Missense_Mutation_p.P229S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	229						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)			TTCATTTAGTCCCTGTGTGCC	0.592000													105	88					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90328647	90328647	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:90328647G>A	ENST00000300060.6	-	21	3150	c.2837C>T	c.(2836-2838)gCc>gTc	p.A946V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	946	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTTGATGTTGGCTTTCGTCTT	0.562000													50	168					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403704	47403704	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:47403704C>T	ENST00000310638.4	-	2	332	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D101N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D101N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	101					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TAGTCAGGGTCATAGAGCTGG	0.522000													92	74					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46331157	46331157	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:46331157G>A	ENST00000245934.7	-	15	2249	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	669					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCGCCTCCAGCACAACCTTG	0.642000													57	126					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097351	144097351	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:144097351T>C	ENST00000467773.1	-	5	898	c.899A>G	c.(898-900)gAt>gGt	p.D300G	NOBOX_ENST00000483238.1_Missense_Mutation_p.D300G|NOBOX_ENST00000223140.5_Missense_Mutation_p.D215G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	300					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCGGCGTTTATCACTGTCAGG	0.562000													33	73					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059148	248059148	+	Missense_Mutation	SNP	G	G	A	rs111963382		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:248059148G>A	ENST00000537741.1	+	3	517	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2W3_ENST00000360358.3_Missense_Mutation_p.G87E			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	87					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)			AACCTTAATGGATGTGACAAG	0.562000													76	128					0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4239621	4239621	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:4239621G>A	ENST00000254742.2	-	4	954	c.368C>T	c.(367-369)cCa>cTa	p.P123L	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Missense_Mutation_p.P147L|TMEM128_ENST00000540397.1_Missense_Mutation_p.P147L	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	147						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAACAACAATGGAGTGAAAAA	0.358000													17	52					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509490	149509490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:149509490G>A	ENST00000261799.4	-	10	1878	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	470	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCTCTTCGGAACTGTTCCC	0.627000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	49					0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294957	103294957	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:103294957G>A	ENST00000243297.5	+	3	723	c.723G>A	c.(721-723)acG>acA	p.T241T	H2BFM_ENST00000355016.3_Silent_p.T138T					H2B histone family, member M											endometrium(1)|lung(1)|ovary(1)	3						CCCAGGGCACGAATGCCGCCC	0.627000													4	1					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445374	110445374	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:110445374C>T	ENST00000378402.5	+	28	3373	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1090	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAGTGGGTTCTGGATTTTCT	0.338000										HNSCC(38;0.096)			200	169					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1118377	1118377	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:1118377C>T	ENST00000379290.1	+	11	1211	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	TTLL10_ENST00000379289.1_Silent_p.P346P|TTLL10_ENST00000379288.3_Silent_p.P273P			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	346	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGACGACCCCATCCACCACA	0.701000													10	22					0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104124042	104124042	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:104124042C>G	ENST00000389744.4	+	3	690	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	KLC1_ENST00000554280.1_Missense_Mutation_p.L141V|KLC1_ENST00000557575.1_Missense_Mutation_p.L141V|KLC1_ENST00000380038.3_Missense_Mutation_p.L141V|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313V|KLC1_ENST00000557450.1_Missense_Mutation_p.L141V|KLC1_ENST00000452929.2_Missense_Mutation_p.L141V|KLC1_ENST00000555836.1_Missense_Mutation_p.L141V|KLC1_ENST00000553286.1_Missense_Mutation_p.L141V|KLC1_ENST00000347839.6_Missense_Mutation_p.L141V|KLC1_ENST00000445352.4_Missense_Mutation_p.L141V|KLC1_ENST00000348520.6_Missense_Mutation_p.L141V|KLC1_ENST00000246489.7_Missense_Mutation_p.L141V|KLC1_ENST00000334553.6_Missense_Mutation_p.L141V			Q07866	KLC1_HUMAN	kinesin light chain 1	141					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TGTGGCTCAACTGGAGGAGGA	0.502000													32	21					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26299688	26299688	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:26299688G>A	ENST00000335473.7	+	31	5288	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E1680K|MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Missense_Mutation_p.E1681K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1680	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTCTGGGGGAAAATTGCGT	0.542000													4	10					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72425248	72425248	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:72425248G>A	ENST00000359373.5	-	4	1479	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.P210S|ARAP1_ENST00000393609.3_Missense_Mutation_p.P210S|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000429686.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	210					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGGGGCAGGGAGGTGGAGAG	0.652000													11	5					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186710	131186710	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:131186710G>A	ENST00000337057.3	-	17	2976	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	932	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.S932F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTTGACACGGACTCAGATGT	0.458000													27	38					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614415	148614415	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:148614415C>T	ENST00000296046.3	+	11	1227	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	392					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTCCAGAATCCCGGATAAAG	0.438000													23	97					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605755	90605755	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:90605755G>A	ENST00000369352.1	+	1	1568	c.1568G>A	c.(1567-1569)gGg>gAg	p.G523E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	523					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)		GCAGATGGAGGGGGAGATTAT	0.343000													9	16					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:62845433C>T	ENST00000512091.1	+	17	3501	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	LPHN3_ENST00000506720.1_Silent_p.I986I|LPHN3_ENST00000506700.1_Silent_p.I918I|LPHN3_ENST00000514157.1_Silent_p.I918I|LPHN3_ENST00000514996.1_Silent_p.I918I|LPHN3_ENST00000508946.1_Silent_p.I918I|LPHN3_ENST00000507164.1_Silent_p.I986I|LPHN3_ENST00000507625.1_Silent_p.I986I|LPHN3_ENST00000545650.1_Silent_p.I918I|LPHN3_ENST00000511324.1_Silent_p.I986I|LPHN3_ENST00000509896.1_Silent_p.I986I|LPHN3_ENST00000514591.1_Silent_p.I918I|LPHN3_ENST00000504896.1_Silent_p.I918I|LPHN3_ENST00000508693.1_Silent_p.I986I|LPHN3_ENST00000506746.1_Silent_p.I986I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	905					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTCTGCATCAGTCTCTTTG	0.458000													106	289					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40747130	40747130	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:40747130C>T	ENST00000373198.3	-	22	3196	c.2961G>A	c.(2959-2961)caG>caA	p.Q987Q	PTPRT_ENST00000373184.1_Silent_p.Q955Q|PTPRT_ENST00000373187.1_Silent_p.Q965Q|PTPRT_ENST00000356100.2_Silent_p.Q974Q|PTPRT_ENST00000373201.1_Silent_p.Q955Q|PTPRT_ENST00000373193.3_Silent_p.Q968Q|PTPRT_ENST00000373190.1_Silent_p.Q964Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	965	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTACAGTCTCCTGCATCGGAC	0.532000													27	68					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103920812	103920812	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:103920812A>C	ENST00000405356.1	+	10	1968	c.1733A>C	c.(1732-1734)gAa>gCa	p.E578A	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.E569A|NOLC1_ENST00000605788.1_Missense_Mutation_p.E568A|NOLC1_ENST00000603742.1_Missense_Mutation_p.E287A			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	568					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GAGGAGGAAGAAGAAAAGAAA	0.517000													32	41					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960868	73960868	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:73960868G>A	ENST00000373468.1	-	3	4175	c.3524C>T	c.(3523-3525)tCa>tTa	p.S1175L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1175L			Q5QGS0	K2022_HUMAN	KIAA2022	1175					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCTTTCTTGATTTTGACAC	0.403000													32	4					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169673786	169673786	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:169673786C>T	ENST00000236147.4	-	5	888	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	230	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAAGTTTGTTCCTTCAGAGCA	0.498000													5	3					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088167	31088167	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:31088167G>A	ENST00000394979.2	+	1	945	c.522G>A	c.(520-522)ttG>ttA	p.L174L	ZNF646_ENST00000300850.5_Silent_p.L174L			O15015	ZN646_HUMAN	zinc finger protein 646	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGAAGGCTTGGCAAGCCACC	0.582000													24	54					0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126382223	126382223	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:126382223C>T	ENST00000357061.3	+	0	190					NR_034158.1																						TTTTCTCCATCAGCAACTAGA	0.587000													18	49					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787509	73787509	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:73787509G>A	ENST00000342056.2	+	5	1215	c.817G>A	c.(817-819)Gga>Aga	p.G273R	KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGTACATAGGATTTTTGGT	0.353000													21	3					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564602	36564602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:36564602G>A	ENST00000397799.1	-	4	904	c.680C>T	c.(679-681)cCc>cTc	p.P227L	COL8A2_ENST00000303143.4_Missense_Mutation_p.P227L|COL8A2_ENST00000481785.1_Missense_Mutation_p.P162L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	227	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGCCGGGGGGGCCGGGGGC	0.711000													7	42					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483789	26483789	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:26483789C>T	ENST00000295589.3	-	5	952	c.758G>A	c.(757-759)aGg>aAg	p.R253K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	253					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCTAGGTTTCCTTTCTGGGTG	0.582000													58	48					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582839	61582839	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:61582839C>T	ENST00000238508.3	+	2	154	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTCTTTTCTTCCTGGAGCATC	0.458000													50	62					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55136211	55136211	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:55136211C>T	ENST00000414150.2	+	6	1709	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MROH7_ENST00000421030.2_Silent_p.S477S|MROH7_ENST00000395690.2_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7_ENST00000409996.1_Silent_p.S45S|MROH7_ENST00000339553.5_Silent_p.S477S					maestro heat-like repeat family member 7																		TCTCAAGCTCCGTCCGCAAGC	0.637000													19	28					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61533511	61533511	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:61533511C>T	ENST00000278836.5	+	3	312	c.216C>T	c.(214-216)gtC>gtT	p.V72V	MYRF_ENST00000265460.5_Silent_p.V63V	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCAGCGGGGTCCACCACCTGA	0.716000													6	22					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71234558	71234558	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:71234558G>C	ENST00000418814.2	+	15	2385	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q	FAM135A_ENST00000505868.1_Missense_Mutation_p.E591Q|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	591										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCCAGATATTGAAAATGTTCA	0.388000													3	12					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176022	140176022	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:140176022C>T	ENST00000526136.1	+	1	1473	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.S491S|PCDHA2_ENST00000378132.1_Silent_p.S491S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGTCCTACTCGCTGG	0.657000													64	4					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152243	66152243	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:66152243C>T	ENST00000489520.2	-	0	700					NR_026825.2																						GCAGAACTTCCCAGGCCAGCA	0.483000													12	4					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832829	61832829	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:61832829C>T	ENST00000280772.1	-	37	8001	c.7810G>A	c.(7810-7812)Gat>Aat	p.D2604N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2604					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGTTCATCATTTAGCTTT	0.433000													34	56					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49604372	49604372	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:49604372G>A	ENST00000371175.4	-	1	180	c.154C>T	c.(154-156)Cct>Tct	p.P52S	RHAG_ENST00000229810.7_Missense_Mutation_p.P52S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TACTCACGAGGATATAACTCA	0.368000													71	107					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555638	45555638	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:45555638T>C	ENST00000588982.1	-	4	2354	c.1853A>G	c.(1852-1854)aAc>aGc	p.N618S	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.N618S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.N618S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.N618S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.N618S			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	618						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCCTAGTTGTTGGCTTCGGA	0.667000													5	9					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902848	88902848	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:88902848C>T	ENST00000237623.7	+	5	544	c.396C>T	c.(394-396)ttC>ttT	p.F132F	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Silent_p.F119F|SPP1_ENST00000395080.3_Silent_p.F146F	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	146					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CCGAAGTTTTCACTCCAGTTG	0.468000													42	71					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32133219	32133219	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:32133219C>T	ENST00000373672.3	-	52	3830	c.3314G>A	c.(3313-3315)gGg>gAg	p.G1105E	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1105E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1105	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCACGCTCCCCCTTGATGCC	0.622000													6	21					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101514271	101514271	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:101514271C>T	ENST00000553692.1	+	0	28				MIR889_ENST00000401280.1_RNA																							AGTATGGTCTCTATATTTATG	0.403000													28	15					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32712940	32712940	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:32712940C>T	ENST00000374940.3	+	2	189	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	29	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGTCAGCTGACCATGTTGCCT	0.473000													82	100					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163916	18163916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:18163916C>T	ENST00000278816.2	+	9	2608	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S653F|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S652F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S525F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	653	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ACGATCAACTCCATGTGTCAG	0.498000													82	66					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548304	17548304	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:17548304G>A	ENST00000005226.7	-	7	574	c.575C>T	c.(574-576)tCt>tTt	p.S192F	USH1C_ENST00000527720.1_Missense_Mutation_p.S161F|USH1C_ENST00000527020.1_Missense_Mutation_p.S192F|USH1C_ENST00000318024.4_Missense_Mutation_p.S192F	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	192					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTTACCCCAGATTCCGACAC	0.567000													16	61					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3189726	3189726	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:3189726T>A	ENST00000251607.6	+	8	1295	c.1193T>A	c.(1192-1194)aTt>aAt	p.I398N	TRNT1_ENST00000280591.6_Missense_Mutation_p.I378N	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	398					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AAAGTGGGCATTTCTTCAGGA	0.418000													18	65					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366453	248366453	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:248366453C>T	ENST00000456743.1	+	1	122	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CCTTCCTCTTCTTTCTGGTCC	0.512000													270	228					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542657	28542657	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:28542657C>T	ENST00000452236.2	-	3	2442	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	609					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTGTGCATTCTTTTTCACAA	0.413000													36	39					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230316	140230316	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:140230316G>A	ENST00000378122.3	+	1	2960	c.2236G>A	c.(2236-2238)Ggg>Agg	p.G746R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G746R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGCGGTGGGGAGTTGGTC	0.652000													62	19					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588106	23588106	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:23588106C>T	ENST00000206513.5	-	1	719	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	65						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GGCCTCTGGCCTCAGGCGCTG	0.622000													49	51					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57088981	57088981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:57088981G>A	ENST00000436936.1	+	26	3859	c.3634G>A	c.(3634-3636)Gag>Aag	p.E1212K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E1212K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1212K|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1212K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1212					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGATCCAACGAGGAGGAGGA	0.602000													46	27					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138424313	138424313	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:138424313C>T	ENST00000310018.2	-	15	1826	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G515E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G515E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	515					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTATGGATTTCCAAAATACAC	0.398000													27	51					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30517983	30517983	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:30517983C>T	ENST00000383096.3	-	23	2778	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	CCDC178_ENST00000403303.1_Missense_Mutation_p.D866N|CCDC178_ENST00000581852.1_Missense_Mutation_p.D71N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D828N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D890N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D890N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000402325.1_Missense_Mutation_p.D816N|CCDC178_ENST00000579916.1_Missense_Mutation_p.D186N					coiled-coil domain containing 178																		GCTTAACCATCGTTTTCGCAT	0.368000													18	55					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120466777	120466777	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:120466777G>A	ENST00000355622.6	+	1	128	c.27G>A	c.(25-27)ggG>ggA	p.G9G	TLR4_ENST00000394487.4_5'UTR|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	9					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCCTGGCTGGGACTCTGATCC	0.602000													14	20					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163388	54163388	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:54163388G>A	ENST00000265572.3	-	2	507	c.210C>T	c.(208-210)ttC>ttT	p.F70F	OPRK1_ENST00000520287.1_Silent_p.F70F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	70					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCCCACGACGAACACTACGG	0.692000													43	33					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272402	158272402	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:158272402C>T	ENST00000264192.3	-	8	988	c.867G>A	c.(865-867)gaG>gaA	p.E289E	CYTIP_ENST00000540637.1_Silent_p.E183E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	289	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AATCATCCCCCTCCTTGGGGA	0.532000													66	69					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545613	196545613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:196545613C>T	ENST00000409086.3	+	2	1122	c.847C>T	c.(847-849)Cca>Tca	p.P283S	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.P283S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	283					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTACATCTTCCAGAACGTAA	0.448000													43	49					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166470	59166470	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:59166470G>A	ENST00000262717.4	+	3	696	c.298G>A	c.(298-300)Gga>Aga	p.G100R	CDH20_ENST00000536675.2_Missense_Mutation_p.G100R|CDH20_ENST00000538374.1_Missense_Mutation_p.G100R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	100	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CATCCTCTCGGGAGAAGGTGC	0.502000													10	38					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295718	29295718	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:29295718G>A	ENST00000331664.5	-	1	1409	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	470					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGAGGTTTTGGAAAGGTGTG	0.532000													35	113					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:56000423C>T	ENST00000313264.4	-	1	314	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413000													11	69					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349172	26349172	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:26349172T>C	ENST00000374280.3	+	1	902	c.35T>C	c.(34-36)cTg>cCg	p.L12P		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	12					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGTGGCTGGCACTGTCA	0.652000													53	60					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756532	32756532	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:32756532G>A	ENST00000249007.4	+	2	872	c.667G>A	c.(667-669)Gga>Aga	p.G223R	RFPL3_ENST00000382088.3_Missense_Mutation_p.G194R|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.G194R|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	223	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TTTGAGGGATGGAAGCCGCCT	0.532000													69	52					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734148	28734148	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:28734148G>A	ENST00000550043.1	+	0	553																											TTCCCCCCAAGGAGTTCCTCT	0.468000													52	41					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568333	45568333	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:45568333G>A	ENST00000256692.5	-	0	352					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATTATCTACAGAATGAACTTC	0.468000													26	34					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103699957	103699957	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:103699957C>T	ENST00000548048.1	-	8	721	c.225G>A	c.(223-225)ttG>ttA	p.L75L	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.L142L|C12orf42_ENST00000548883.1_Silent_p.L142L|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	142										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CAGTAAAAATCAATGGGGCCT	0.458000													26	3					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6912103	6912103	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr18:6912103C>T	ENST00000419673.2	+	17	1880	c.1663C>T	c.(1663-1665)Cgt>Tgt	p.R555C	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R555C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R714C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R550C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	537					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGATGTATATCGTATAAATCC	0.373000													21	21					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120221704	120221704	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:120221704G>A	ENST00000019103.5	-	6	898	c.631C>T	c.(631-633)Cac>Tac	p.H211Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	211					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATTACCCTGTGGGCATCGCAG	0.582000													30	101					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54866904	54866904	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:54866904G>A	ENST00000391743.3	-	9	1063	c.783C>T	c.(781-783)atC>atT	p.I261I	LAIR1_ENST00000434277.2_Silent_p.I278I|LAIR1_ENST00000348231.4_Silent_p.I262I|LAIR1_ENST00000474878.1_Silent_p.I261I|LAIR1_ENST00000391742.2_Silent_p.I279I|LAIR1_ENST00000313038.6_Silent_p.I272I			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	279						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGCATACGTGATGGACTCGG	0.597000													43	140					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948884	165948884	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:165948884G>A	ENST00000360093.3	-	27	5178	c.4687C>T	c.(4687-4689)Cta>Tta	p.L1563L	SCN3A_ENST00000409101.3_Silent_p.L1514L|SCN3A_ENST00000283254.7_Silent_p.L1563L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Silent_p.L46L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1563						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)	ATGAACACTAGGTTGATCCGG	0.458000													58	48					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54850615	54850615	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:54850615G>A	ENST00000333896.5	+	9	1410		c.e9-1		SPTBN1_ENST00000356805.4_Splice_Site	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTGTGTTTAGATTTACTGAG	0.428000													31	50					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21101926	21101926	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:21101926G>T	ENST00000255882.6	-	29	3394	c.3308C>A	c.(3307-3309)gCc>gAc	p.A1103D	PI4KA_ENST00000572273.1_Missense_Mutation_p.A1045D	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1045					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTCTCAGTGGCCATGGCCAG	0.493000													42	62					1.47197e-15	1.49879e-15	1	1	0
SDHA	6389	broad.mit.edu	37	5	223656	223656	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:223656G>A	ENST00000264932.6	+	2	238	c.123G>A	c.(121-123)aaG>aaA	p.K41K	SDHA_ENST00000510361.1_Silent_p.K41K|SDHA_ENST00000504309.1_Silent_p.K41K	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	41					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATGGGAACAAGAGGGCATCTG	0.428000									Familial Paragangliomas				45	10					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607720	27607720	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:27607720G>A	ENST00000344034.4	-	5	909	c.645C>T	c.(643-645)tcC>tcT	p.S215S	PPM1G_ENST00000350803.4_Silent_p.S215S	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	215					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCGAGTTGGAGGAAAAGCCTG	0.592000													55	58					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901204	51901204	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:51901204C>T	ENST00000268919.4	+	1	966	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	270	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCATGCCTTCGATGACAAAG	0.572000													16	50					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789987	26789987	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:26789987G>A	ENST00000376236.4	+	5	855	c.400G>A	c.(400-402)Gat>Aat	p.D134N	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D134N	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	134	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.D134N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCCACCAGCCGATCCTGTGTT	0.512000													41	96					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023604	130023604	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:130023604A>G	ENST00000011292.3	+	6	815	c.665A>G	c.(664-666)aAc>aGc	p.N222S	CPA1_ENST00000484324.1_Missense_Mutation_p.N134S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	222					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ATCGTCACCAACCCTGATGGC	0.567000													77	72					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114170964	114170964	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:114170964C>T	ENST00000357077.4	+	10	989	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ANK2_ENST00000394537.3_Silent_p.D312D|ANK2_ENST00000264366.6_Silent_p.D312D|ANK2_ENST00000506722.1_Silent_p.D291D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.D312D(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)		GTGGGCATGACCAAGTGGTGG	0.443000													15	24					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148572	34148572	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:34148572G>A	ENST00000346193.3	-	1	1875	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	608										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTCACGGAGTTTTTCCG	0.448000													40	4					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70729975	70729975	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:70729975C>T	ENST00000354185.4	+	8	1353	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	419						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TATTAAGTGCCACTGGACTCA	0.398000													25	38					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767603	31767603	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:31767603G>A	ENST00000240587.4	-	2	3423	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1032					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCTCGGGGGAGGACGTCA	0.498000													27	13					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4249767	4249767	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:4249767G>A	ENST00000404826.2	+	38	5651	c.5512G>A	c.(5512-5514)Gtg>Atg	p.V1838M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1818M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1838	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTATCGGGTGGTGTACGAGCC	0.642000													33	84					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021456	2021456	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:2021456C>T	ENST00000262113.4	+	10	1137	c.996C>T	c.(994-996)ttC>ttT	p.F332F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	332	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGAAGATGTTCTTTGGAGAAG	0.572000													23	95					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519259	50519259	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:50519259G>A	ENST00000267842.5	+	7	1573	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	SLC27A2_ENST00000380902.4_Silent_p.K394K|SLC27A2_ENST00000544960.1_Silent_p.K212K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	447					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGACAGAGAAGAAAAAACTGA	0.388000													16	57					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221472	161221472	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:161221472C>T	ENST00000327928.4	+	4	1176	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	392	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTTTTTCCTACCATATTACGG	0.438000													9	25					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341902	100341902	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:100341902G>A	ENST00000437033.2	-	6	1116	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	ADH7_ENST00000482593.1_Silent_p.L148L|ADH7_ENST00000209665.4_Silent_p.L217L|ADH7_ENST00000476959.1_Silent_p.L225L			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	217					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATGACTGACAGGCCAACTCCT	0.488000													63	34					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596767	24596767	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:24596767G>A	ENST00000535378.1	-	4	750	c.108C>T	c.(106-108)atC>atT	p.I36I	KIAA0319_ENST00000537886.1_Silent_p.I45I|KIAA0319_ENST00000430948.2_5'UTR|KIAA0319_ENST00000378214.3_Silent_p.I45I|KIAA0319_ENST00000543707.1_Silent_p.I45I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	45	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACACCCGCATGATTCTGGTGG	0.542000													28	44					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58980668	58980668	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:58980668C>T	ENST00000536459.2	+	2	825	c.116C>T	c.(115-117)tCg>tTg	p.S39L	ZNF324_ENST00000196482.3_Missense_Mutation_p.S39L			O75467	Z324A_HUMAN	zinc finger protein 324	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTTGTGGCCTCGCTGGGTAAG	0.612000													14	39					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18630844	18630844	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:18630844G>A	ENST00000395902.3	+	6	529	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TRIM16L_ENST00000449552.2_5'UTR|TRIM16L_ENST00000414850.2_5'UTR|TRIM16L_ENST00000571708.1_5'UTR|TRIM16L_ENST00000395671.4_5'UTR|TRIM16L_ENST00000395672.2_5'UTR|TRIM16L_ENST00000572555.1_5'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	0						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCAGGTGTCGGTGTCAGAGGT	0.512000													9	58					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45882540	45882540	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:45882540G>A	ENST00000443527.2	+	4	694	c.672G>A	c.(670-672)gaG>gaA	p.E224E	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Silent_p.E142E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	203					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						AGATCCAGGAGAACCACGACG	0.602000													42	39					0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18465228	18465228	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:18465228C>A	ENST00000259939.3	+	8	1159	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	RNF144B_ENST00000429054.2_Missense_Mutation_p.P192Q	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	281					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGGCCTCCCCATGTATAATC	0.473000													7	31					0.000157383	0.000158328	1	1	0
GRM7	2917	broad.mit.edu	37	3	7188181	7188181	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:7188181G>A	ENST00000486284.1	+	2	836	c.562G>A	c.(562-564)Gat>Aat	p.D188N	GRM7_ENST00000389336.4_Missense_Mutation_p.D188N|GRM7_ENST00000402647.2_Missense_Mutation_p.D188N|GRM7_ENST00000403881.1_Missense_Mutation_p.D188N|GRM7_ENST00000357716.4_Missense_Mutation_p.D188N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	188					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGAGCTAAGTGATGACCGGCG	0.517000													32	115					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101117322	101117322	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:101117322C>T	ENST00000356713.4	+	2	1916	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	CNNM1_ENST00000446890.1_Missense_Mutation_p.P472S|CNNM1_ENST00000370534.4_Missense_Mutation_p.P178S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P472S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	543	CBS 2.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGAAGGGGACCCTTTCTATGA	0.453000													9	21					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17838132	17838132	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:17838132G>A	ENST00000325083.8	+	24	4415	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	PCM1_ENST00000327578.8_Missense_Mutation_p.E6K|PCM1_ENST00000519253.1_Missense_Mutation_p.E1326K|PCM1_ENST00000524226.1_Intron	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1326	Interaction with HAP1.		E -> D (in dbSNP:rs34932823).		centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TAGCACATGTGAACCTTGCAA	0.388000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								91	64					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460435	27460435	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:27460435C>T	ENST00000337929.3	+	9	1921	c.1448C>T	c.(1447-1449)gCc>gTc	p.A483V	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.A483V|IL21R_ENST00000395754.4_Missense_Mutation_p.A483V|IL21R_ENST00000395755.1_Missense_Mutation_p.A483V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	483					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCACCCCTGGCCGGCCTGGAT	0.667000			T	BCL6	NHL								39	6					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140081953	140081953	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:140081953G>A	ENST00000323927.2	-	2	724	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGAGCTGATGGAACTGCTCCA	0.637000													31	49					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40127760	40127760	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:40127760C>T	ENST00000261435.6	+	12	4753	c.4337C>T	c.(4336-4338)tCc>tTc	p.S1446F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1446						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGATCCTTCCTTGGTTGGA	0.333000													71	54					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855834	16855834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:16855834G>A	ENST00000261652.2	-	2	137	c.125C>T	c.(124-126)cCt>cTt	p.P42L	TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.P42L|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000583789.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	42					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ACCCAGCAGAGGATCCCAGTA	0.617000									IgA Deficiency, Selective				30	9					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672277	63672277	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:63672277C>T	ENST00000402010.2	+	16	2275	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	MARK2_ENST00000509502.2_Missense_Mutation_p.P532S|MARK2_ENST00000425897.2_Missense_Mutation_p.P486S|MARK2_ENST00000513765.2_Missense_Mutation_p.P533S|MARK2_ENST00000377809.4_Missense_Mutation_p.P566S|MARK2_ENST00000502399.3_Missense_Mutation_p.P565S|MARK2_ENST00000408948.3_Missense_Mutation_p.P478S|MARK2_ENST00000508192.1_Missense_Mutation_p.P511S|MARK2_ENST00000413835.2_Missense_Mutation_p.P512S|MARK2_ENST00000377810.3_Missense_Mutation_p.P478S|MARK2_ENST00000361128.5_Missense_Mutation_p.P512S|MARK2_ENST00000350490.7_Missense_Mutation_p.P511S|MARK2_ENST00000315032.8_Missense_Mutation_p.P566S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	566					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P532S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCGTGTCCCTGTTGCCTC	0.627000													55	72					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61894226	61894226	+	Splice_Site	SNP	A	A	G			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:61894226A>G	ENST00000578681.1	+	18	2614		c.e18-1		DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTATTTTTTTAGGATCGAGGA	0.403000													3	43					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653762	3653762	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:3653762G>A	ENST00000263087.4	-	16	2006	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	636					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGGCCACCGTGGAGGCTCTGA	0.617000													25	9					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51410324	51410324	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:51410324G>A	ENST00000324041.1	-	5	630	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	211	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TTGCAGATCAGGGGCCCCCCA	0.527000													51	32					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564318	57564318	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:57564318G>A	ENST00000524630.1	+	6	1323	c.810G>A	c.(808-810)gtG>gtA	p.V270V	CTNND1_ENST00000534579.1_Silent_p.V216V|CTNND1_ENST00000528621.1_Silent_p.V216V|CTNND1_ENST00000532844.1_Silent_p.V216V|CTNND1_ENST00000529919.1_Silent_p.V270V|CTNND1_ENST00000532245.1_Silent_p.V169V|CTNND1_ENST00000526357.1_Silent_p.V216V|CTNND1_ENST00000361332.4_Silent_p.V270V|CTNND1_ENST00000428599.2_Silent_p.V270V|CTNND1_ENST00000415361.2_Silent_p.V169V|CTNND1_ENST00000528232.1_Silent_p.V169V|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.V270V|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Silent_p.V169V|CTNND1_ENST00000532649.1_Silent_p.V216V|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Silent_p.V169V|CTNND1_ENST00000361796.4_Silent_p.V270V|CTNND1_ENST00000361391.6_Silent_p.V270V|CTNND1_ENST00000530748.1_Silent_p.V216V|CTNND1_ENST00000529873.1_Silent_p.V216V|CTNND1_ENST00000530094.1_Silent_p.V169V|CTNND1_ENST00000426142.2_Silent_p.V169V|CTNND1_ENST00000399050.4_Silent_p.V270V|CTNND1_ENST00000399039.4_Silent_p.V270V|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000360682.6_Silent_p.V270V|CTNND1_ENST00000532787.1_Silent_p.V169V|CTNND1_ENST00000529526.1_Silent_p.V216V|CTNND1_ENST00000526938.1_Silent_p.V270V			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	270					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGAGCAGCGTGGATCTGCATC	0.542000													62	247					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225637	9225637	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:9225637G>A	ENST00000293614.1	-	1	802	c.803C>T	c.(802-804)tCc>tTc	p.S268F	OR7G1_ENST00000541538.1_Missense_Mutation_p.S268F			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGTAATTCGGGAAGACTCAGC	0.448000													23	75					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579717	7579717	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:7579717G>A	ENST00000420246.2	-	3	211	c.79C>T	c.(79-81)Cct>Tct	p.P27S	TP53_ENST00000413465.2_Missense_Mutation_p.P27S|TP53_ENST00000445888.2_Missense_Mutation_p.P27S|TP53_ENST00000269305.4_Missense_Mutation_p.P27S|TP53_ENST00000455263.2_Missense_Mutation_p.P27S|TP53_ENST00000359597.4_Missense_Mutation_p.P27S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P27fs*17(2)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTTTTCAGGAAGTCTGAAA	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	5					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83631273	83631273	+	Missense_Mutation	SNP	G	G	A	rs137871935		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:83631273G>A	ENST00000265362.3	-	12	1764	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R484W	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	484	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCACTCACCCGAAAAACTGTC	0.418000													9	49					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576361	110576361	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:110576361G>A	ENST00000338081.3	-	4	1140	c.969C>T	c.(967-969)ttC>ttT	p.F323F	DCX_ENST00000356915.2_Silent_p.F242F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Silent_p.F242F|DCX_ENST00000488120.1_Silent_p.F242F|DCX_ENST00000371993.2_Silent_p.F242F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	323	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATCACCAAAGAAATCATGGA	0.403000													4	2					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67101675	67101675	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:67101675C>T	ENST00000284425.2	-	20	2842	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	890					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)					AAATACAATTCGTTTTTAAAT	0.328000													10	30					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41137517	41137517	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:41137517G>T	ENST00000380588.4	+	3	259	c.156G>T	c.(154-156)aaG>aaT	p.K52N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	52	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GAGTCCTGAAGGGCTCCCAGG	0.527000													17	20					1.30988e-24	1.33916e-24	1	1	0
F10	2159	broad.mit.edu	37	13	113803738	113803738	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:113803738C>T	ENST00000375559.3	+	8	1412	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	458	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCGCCTTCCTCAAGTGGA	0.577000													31	110					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277667	159277667	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:159277667G>A	ENST00000368115.1	+	6	818	c.719G>A	c.(718-720)aGg>aAg	p.R240K	FCER1A_ENST00000368114.1_Missense_Mutation_p.R207K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	240						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AAGAGAACCAGGAAAGGCTTC	0.383000													51	44					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322664	31322664	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:31322664G>A	ENST00000580599.1	+	3	474	c.65G>A	c.(64-66)gGt>gAt	p.G22D	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.G91D			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	91					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGCTCTACGGTCGTTGTGAA	0.622000													36	51					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806017	54806017	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:54806017G>A	ENST00000306858.7	+	5	2364	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	750										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAATAAAGAGGAATCTAACAA	0.413000													47	74					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880685	64880685	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:64880685G>A	ENST00000533854.1	+	5	714	c.477G>A	c.(475-477)gaG>gaA	p.E159E	CACNG5_ENST00000169565.3_Silent_p.E159E|CACNG5_ENST00000307139.3_Silent_p.E159E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCAACGATGAGATGCTCAACA	0.567000													32	93					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760871	20760871	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr22:20760871C>T	ENST00000400451.2	+	5	2062	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.I516I|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Silent_p.I484I	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTCCCTCATCGTGCACCAGC	0.592000													40	138					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44492363	44492363	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:44492363G>A	ENST00000425708.2	-	4	1031	c.690C>T	c.(688-690)ctC>ctT	p.L230L	ZNF445_ENST00000396077.2_Silent_p.L230L			P59923	ZN445_HUMAN	zinc finger protein 445	230					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCTCACCTGGAGCTGGGCTG	0.577000													6	6					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109518567	109518567	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:109518567G>A	ENST00000356711.2	+	12	1462	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	MYO16_ENST00000357550.2_Missense_Mutation_p.E446K|MYO16_ENST00000251041.5_Missense_Mutation_p.E446K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	446	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCATACAAGGAGCTTCCAAT	0.308000													20	91					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169673787	169673787	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:169673787C>T	ENST00000236147.4	-	5	887	c.727G>A	c.(727-729)Gga>Aga	p.G243R	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	230	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAGTTTGTTCCTTCAGAGCAG	0.502000													5	3					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760858	46760858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:46760858G>A	ENST00000311907.5	+	14	1825	c.1769G>A	c.(1768-1770)tGg>tAg	p.W590*	F2_ENST00000530231.1_Nonsense_Mutation_p.W551*	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	590	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ATCGTCTCATGGGGTGAAGGC	0.463000													54	60					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46396386	46396386	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:46396386C>T	ENST00000454345.1	+	19	2284	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	DGKZ_ENST00000421244.2_Missense_Mutation_p.P532L|DGKZ_ENST00000343674.6_Missense_Mutation_p.P548L|DGKZ_ENST00000528615.1_Missense_Mutation_p.P310L|DGKZ_ENST00000456247.2_Missense_Mutation_p.P531L|DGKZ_ENST00000527911.1_Missense_Mutation_p.P532L|DGKZ_ENST00000532868.2_Missense_Mutation_p.P536L|DGKZ_ENST00000318201.8_Missense_Mutation_p.P509L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.P498L	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	720					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTGAACATCCCCAGGTGAGGA	0.597000													41	52					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55894190	55894190	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:55894190C>T	ENST00000447944.2	-	13	1198	c.1112G>A	c.(1111-1113)aGt>aAt	p.S371N		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	371					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACCTCACAACTTACATTCCT	0.328000													36	40					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83328416	83328416	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:83328416G>A	ENST00000261722.3	-	26	3352	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L	AP3B2_ENST00000535348.1_Silent_p.L1017L|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.L1068L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1049					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGCATCCAGGGTCAGCAGA	0.562000													15	42					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	198001381	198001381	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:198001381G>A	ENST00000328737.2	-	4	197	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R41C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R58C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R41C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R66C|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R66C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	66							protein binding	p.R41C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTACACGAGCTCCTGGA	0.468000													31	31					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99799946	99799946	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:99799946C>T	ENST00000426455.1	+	24	2953	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	STAG3_ENST00000317296.5_Missense_Mutation_p.P849L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.P791L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	849					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATCCAGCCGGGAGACCTG	0.547000													34	140					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92224289	92224289	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:92224289G>A	ENST00000212355.4	-	4	730	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P89S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P89S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	89					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAGGAGATGGGATTCAGGTGA	0.507000													49	98					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48306127	48306127	+	Silent	SNP	G	G	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:48306127G>T	ENST00000535759.1	-	4	431	c.432C>A	c.(430-432)gtC>gtA	p.V144V	TPRX1_ENST00000543508.1_Silent_p.V47V|TPRX1_ENST00000322175.3_Silent_p.V47V			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	47	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		AGGCTGCAGGGACTAGGGGCG	0.726000													8	9					0.0692343	0.0692343	1	1	0
LCT	3938	broad.mit.edu	37	2	136566053	136566053	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:136566053C>T	ENST00000264162.2	-	8	3874	c.3864G>A	c.(3862-3864)agG>agA	p.R1288R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1288	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTAAAATATCCTATCAGTAT	0.463000													125	185					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6681984	6681984	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:6681984C>T	ENST00000245907.6	-	35	4410	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1440	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGTTCCTATCGGAGAAGGCT	0.547000													45	119					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598113	49598113	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:49598113C>T	ENST00000527477.1	+	0	717																											GGCTGTGGCCCTAGAGCAGAG	0.527000													17	19					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114158691	114158691	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:114158691C>T	ENST00000393081.1	+	3	496	c.189C>T	c.(187-189)aaC>aaT	p.N63N	ACSL5_ENST00000354655.4_Silent_p.N63N|ACSL5_ENST00000354273.4_Silent_p.N63N|ACSL5_ENST00000433418.1_Silent_p.N63N|ACSL5_ENST00000356116.1_Silent_p.N119N|ACSL5_ENST00000479936.1_3'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	63					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)		CCCAGAAGAACAATGACCTAA	0.478000													30	33					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38810819	38810819	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:38810819A>T	ENST00000310301.4	-	14	1218	c.1164T>A	c.(1162-1164)aaT>aaA	p.N388K	VPS41_ENST00000395969.2_Missense_Mutation_p.N363K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	388					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTCTTTTAATATTTTTTTGGC	0.279000													28	55					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70972629	70972629	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:70972629C>T	ENST00000393567.2	-	44	7033	c.6883G>A	c.(6883-6885)Gag>Aag	p.E2295K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2295										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)				CGCTCCTTCTCTTTCTCAAGA	0.542000													18	41					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89504779	89504779	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:89504779C>T	ENST00000361175.4	+	11	1866	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	PAPSS2_ENST00000456849.1_Silent_p.S504S|PAPSS2_ENST00000427144.2_Silent_p.S503S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	499					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ACTGCAGGTCCCGGATGATTG	0.502000													15	16					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760925	46760925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:46760925G>A	ENST00000311907.5	+	14	1892	c.1836G>A	c.(1834-1836)tgG>tgA	p.W612*	F2_ENST00000530231.1_Nonsense_Mutation_p.W573*	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	612	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TGAAGAAGTGGATACAGAAGG	0.473000													44	62					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580244	161580244	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:161580244G>A	ENST00000356592.3	+	10	1758	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GABRG2_ENST00000361925.4_Missense_Mutation_p.R425Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R330Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R473Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R433Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAGATTGTCGAACAGGAGCT	0.468000													35	50					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36986129	36986129	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:36986129G>A	ENST00000497382.1	+	0	614				VIT_ENST00000401530.1_Missense_Mutation_p.G143S|VIT_ENST00000379241.3_Missense_Mutation_p.G143S|VIT_ENST00000389975.3_Missense_Mutation_p.G143S|VIT_ENST00000457137.2_Missense_Mutation_p.G143S|VIT_ENST00000379242.3_Missense_Mutation_p.G143S|VIT_ENST00000404084.1_Missense_Mutation_p.G121S			Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACCCAAAAAGGGTGTAACCTA	0.398000													89	112					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711363	42711363	+	Missense_Mutation	SNP	G	G	A	rs45590635		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr5:42711363G>A	ENST00000230882.4	+	7	863	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	GHR_ENST00000537449.1_Missense_Mutation_p.E38K|GHR_ENST00000357703.3_Missense_Mutation_p.E203K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	225	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTGGATAAGGAATATGAAGT	0.398000													86	117					0	0	1	0	0
LINC00854	100874261	broad.mit.edu	37	17	41381938	41381938	+	RNA	SNP	C	C	G	rs4986161		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:41381938C>G	ENST00000433702.2	-	0	14					NR_047479.1																						aagagctgatcttatgcaggg	0.552000													5	45					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95551057	95551057	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:95551057C>T	ENST00000325542.5	+	5	849	c.611C>T	c.(610-612)gCc>gTc	p.A204V	CEP57_ENST00000541150.1_Missense_Mutation_p.A195V|CEP57_ENST00000325486.5_Missense_Mutation_p.A204V|CEP57_ENST00000537677.1_Missense_Mutation_p.A177V|CEP57_ENST00000538658.1_Missense_Mutation_p.A204V	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	204	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAATGCAGGCCCTTGCAGAA	0.338000									Mosaic Variegated Aneuploidy Syndrome				41	57					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699455	50699455	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:50699455C>T	ENST00000404971.1	-	17	4684	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	NRXN1_ENST00000401669.2_Silent_p.Q1075Q|NRXN1_ENST00000401710.1_Silent_p.Q84Q|NRXN1_ENST00000406859.3_Silent_p.Q1075Q|NRXN1_ENST00000406316.2_Silent_p.Q1075Q|NRXN1_ENST00000402717.3_Silent_p.Q1067Q|NRXN1_ENST00000405472.3_Silent_p.Q1067Q|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1075	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCTCTCGATCTGTCCGTTGC	0.433000													24	26					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16467092	16467092	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:16467092G>A	ENST00000395824.1	-	4	1166	c.549C>T	c.(547-549)gaC>gaT	p.D183D	ZNF287_ENST00000395825.3_Silent_p.D183D			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	176	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTAACTCCCAGTCCTCCTGGG	0.423000													52	2					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13803745	13803745	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:13803745C>T	ENST00000454189.2	-	2	314	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GPM6B_ENST00000493677.1_Missense_Mutation_p.E96K|GPM6B_ENST00000316715.4_Missense_Mutation_p.E122K|GPM6B_ENST00000356942.5_Missense_Mutation_p.E82K|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.E122K	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	82					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTTACACCTCGCTCAGCAAG	0.567000													44	6					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086413	92086413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:92086413G>A	ENST00000298047.6	+	1	1152	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	FAT3_ENST00000541502.1_Missense_Mutation_p.E379K|FAT3_ENST00000409404.2_Missense_Mutation_p.E379K|FAT3_ENST00000525166.1_Missense_Mutation_p.E229K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	379	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E379Q(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTGAAAAAGAAGTGTACGA	0.403000										TCGA Ovarian(4;0.039)			9	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526198	176526198	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:176526198C>T	ENST00000367662.3	+	2	1904	c.740C>T	c.(739-741)tCc>tTc	p.S247F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S247F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	247					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGAGGGCTCCTACCGAGAA	0.532000													81	71					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101674	41101674	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:41101674G>A	ENST00000372684.3	-	4	742	c.273C>T	c.(271-273)atC>atT	p.I91I	RIMS3_ENST00000372683.1_Silent_p.I91I	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	91					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCTCCACCGCGATGCCTGTCT	0.667000													33	79					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849693	73849693	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:73849693G>A	ENST00000523207.1	+	3	2691	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	701					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAGTCCTAAGAGCTCTCTAA	0.517000													33	144					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28792354	28792354	+	Silent	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:28792354C>A	ENST00000373839.3	+	5	691	c.430C>A	c.(430-432)Cga>Aga	p.R144R	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.R154R	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	144							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAAAGAAACGACTAGGTAA	0.423000													33	88					1.90571e-15	1.93651e-15	1	1	0
NDUFB2	4708	broad.mit.edu	37	7	140402711	140402711	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:140402711C>T	ENST00000476279.1	+	2	218	c.144C>T	c.(142-144)ccC>ccT	p.P48P	NDUFB2_ENST00000204307.5_Silent_p.P38P|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000247866.4_Silent_p.P48P|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000475276.1_Silent_p.P21P|NDUFB2_ENST00000471136.1_Silent_p.P36P|NDUFB2_ENST00000465506.1_Silent_p.P48P			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	GACAGTTCCCCCAGCTGACCA	0.537000													147	77					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947261	237947261	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:237947261C>T	ENST00000366574.2	+	90	12566	c.12249C>T	c.(12247-12249)ttC>ttT	p.F4083F	RYR2_ENST00000360064.6_Silent_p.F4089F|RYR2_ENST00000542537.1_Silent_p.F4067F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4083					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)			ACGAAGAGTTCGTCAAACGCT	0.512000													14	50					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892978	166892978	+	Silent	SNP	A	A	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:166892978A>T	ENST00000423058.2	-	16	3026	c.3009T>A	c.(3007-3009)acT>acA	p.T1003T	SCN1A_ENST00000409050.1_Silent_p.T975T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1003T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T992T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1003						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TATCATCATCAGTGGCTGCAA	0.343000													10	52					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99995850	99995850	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:99995850C>T	ENST00000289371.5	+	12	2222	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	674					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCAATGTTCCTCTTGAAGC	0.343000													13	38					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177757	146177757	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:146177757G>A	ENST00000497985.1	-	4	593	c.154C>T	c.(154-156)Cca>Tca	p.P52S	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CCAGCAGGTGGGACTAGGTAG	0.567000													29	29					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823363	54823363	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:54823363C>T	ENST00000301219.3	-	4	299	c.180G>A	c.(178-180)ggG>ggA	p.G60G	LILRA5_ENST00000432233.3_Silent_p.G60G|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.G48G|LILRA5_ENST00000346508.3_Silent_p.G48G	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	60	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAGAGTTCCCCCGGCTGA	0.612000													34	80					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831765	36831765	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:36831765G>A	ENST00000270001.7	-	5	1078	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F321F(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GACCACATACGAAGGCTTTCC	0.413000													56	47					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89912291	89912291	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:89912291C>T	ENST00000389297.4	+	13	1709	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	C7orf63_ENST00000497910.1_Silent_p.L468L|C7orf63_ENST00000316089.8_Silent_p.L486L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	486							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GTTTAAGACTCCTGAGAGCCG	0.413000													38	38					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847965	18847965	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:18847965C>T	ENST00000266505.7	-	12	1603	c.1340G>A	c.(1339-1341)gGg>gAg	p.G447E	PLCZ1_ENST00000435379.1_Missense_Mutation_p.G252E|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G310E|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G445E|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G229E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G254E			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAAAAATTTCCCATTTTGCAG	0.343000													59	56					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154108435	154108435	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:154108435G>A	ENST00000368559.3	-	7	935	c.864C>T	c.(862-864)ccC>ccT	p.P288P	NUP210L_ENST00000271854.3_Silent_p.P288P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	288						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATGTTCCAGGGGAAATTTCA	0.383000													34	46					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810268	11810268	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:11810268C>T	ENST00000510878.1	+	4	427	c.393C>T	c.(391-393)ccC>ccT	p.P131P	AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTGCGCCCGGCCCTGCCC	0.642000													9	26					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380773	124380773	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:124380773G>C	ENST00000338354.3	+	41	5204	c.5098G>C	c.(5098-5100)Gga>Cga	p.G1700R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1690R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1690R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1072R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1700R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1072R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1700	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGGGCTCAGGACCCATTGT	0.612000													65	104					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322806	5322806	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:5322806C>T	ENST00000380224.1	-	1	420	c.371G>A	c.(370-372)cGc>cAc	p.R124H	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R124H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGGTGTGCGGATGGCAAT	0.453000													4	105					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53403514	53403514	+	RNA	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:53403514T>A	ENST00000565421.1	-	0	1103																											CTGTCTTCTCTTTCTTCCAGG	0.338000													3	6					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564603	36564603	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:36564603G>A	ENST00000397799.1	-	4	903	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P227S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P162S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	227	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCGGGGGGGCCGGGGGCA	0.716000													7	40					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510604	49510604	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:49510604C>A	ENST00000396029.3	-	5	1214	c.647G>T	c.(646-648)cGa>cTa	p.R216L	ADNP_ENST00000396032.3_Missense_Mutation_p.R216L|ADNP_ENST00000371602.4_Missense_Mutation_p.R216L|ADNP_ENST00000349014.3_Missense_Mutation_p.R216L	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACTCTCTTCTCGGGCATTCGA	0.463000													28	67					9.39395e-14	9.50735e-14	1	1	0
TBCK	93627	broad.mit.edu	37	4	107171634	107171634	+	Splice_Site	SNP	C	C	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:107171634C>A	ENST00000273980.4	-	8	1046	c.597_splice	c.e8-1	p.G200_splice	TBCK_ENST00000432496.2_Splice_Site_p.G200_splice|TBCK_ENST00000361687.4_Splice_Site_p.G137_splice|TBCK_ENST00000394706.3_Splice_Site_p.G161_splice|TBCK_ENST00000394708.2_Splice_Site_p.G200_splice			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	200	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TAATTTTCTTCCCTAAATAAA	0.274000													8	38					1.12685e-05	1.13588e-05	1	1	0
SH2D3A	10045	broad.mit.edu	37	19	6760715	6760715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:6760715C>T	ENST00000245908.6	-	3	622	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	118					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCGCAGAGGCCCCTGCCAAGT	0.612000													14	27					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117676893	117676893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:117676893C>T	ENST00000276204.6	+	3	298	c.224C>T	c.(223-225)tCg>tTg	p.S75L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S75L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	75	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCTAGATCTCGGTGATAGGT	0.398000													37	5					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435899	158435899	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:158435899C>T	ENST00000289451.2	+	1	628	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GACATCTCCCCTGTCCTTAAA	0.512000													90	214					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185676	41185676	+	RNA	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr6:41185676G>A	ENST00000564680.1	-	0	9																											TGCAGGAAGAGGGTCTGTCCT	0.527000													16	59					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653515	5653515	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:5653515G>A	ENST00000354852.5	+	8	1189	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	TRIM34_ENST00000429814.2_5'UTR|TRIM34_ENST00000514226.1_5'UTR|HBG2_ENST00000380259.2_Intron	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		339						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGAAGAGAGAGGAGAGCCTCA	0.448000											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	90					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63175679	63175679	+	Missense_Mutation	SNP	C	C	T	rs147323107	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:63175679C>T	ENST00000279178.3	+	8	1633	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	462					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGAAGTAATTCCCACCATAAT	0.453000													20	28					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187197476	187197476	+	Silent	SNP	C	C	T	rs150644991		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:187197476C>T	ENST00000264692.4	+	7	864	c.531C>T	c.(529-531)atC>atT	p.I177I	F11_ENST00000403665.2_Silent_p.I229I			P03951	FA11_HUMAN	coagulation factor XI	229	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GTGGCCGAATCTGCACTCATC	0.448000													25	73					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802781	185802781	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:185802781C>T	ENST00000302277.6	+	4	3252	c.2658C>T	c.(2656-2658)ctC>ctT	p.L886L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	886						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						CTAACAATCTCCTTCCTTCTG	0.383000													42	69					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838160	92838160	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:92838160C>T	ENST00000394468.2	-	4	822	c.745G>A	c.(745-747)Gat>Aat	p.D249N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D237N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D237N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D272N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	249	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGCCCTTTATCAGAATTCACT	0.398000													25	130					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211478	78211478	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr15:78211478C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							AGTCTCTCCTCCTGCTCCTGG	0.582000													50	188					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30785434	30785434	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:30785434G>A	ENST00000324685.6	+	20	3440	c.3005G>A	c.(3004-3006)tGa>tAa	p.*1002*	RNF40_ENST00000563683.1_Silent_p.*962*|RNF40_ENST00000402121.3_Silent_p.*694*|RNF40_ENST00000357890.5_Silent_p.*902*	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	0					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TACATCAGCTGAACCTGAAAC	0.632000													23	64					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399847	25399847	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:25399847G>A	ENST00000255324.5	+	16	2234	c.2182G>A	c.(2182-2184)Gtt>Att	p.V728I	RNF17_ENST00000381921.1_Missense_Mutation_p.V728I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	728	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCTGTCCAGTTCAAGATCA	0.373000													43	67					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029730	193029730	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:193029730C>T	ENST00000342358.4	-	20	2437	c.2319_splice	c.e20-1	p.E774_splice	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	774					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGTAGATTTCCTAAAATCAA	0.408000													48	51					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415304	17415304	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:17415304T>A	ENST00000302539.4	-	38	4676	c.4551A>T	c.(4549-4551)gaA>gaT	p.E1517D	ABCC8_ENST00000389817.3_Missense_Mutation_p.E1516D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1516	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAGGATGTTTTCCTGCCAAG	0.627000													110	125					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173970	51173970	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:51173970C>T	ENST00000440970.1	-	2	2303	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L721L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	721					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGCATTTTCAAGGCGCTCT	0.517000													27	56					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32133220	32133220	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:32133220C>T	ENST00000373672.3	-	52	3829	c.3313G>A	c.(3313-3315)Ggg>Agg	p.G1105R	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1105R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1105	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCACGCTCCCCCTTGATGCCC	0.622000													6	21					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42887208	42887208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:42887208G>A	ENST00000342560.5	+	3	596	c.508G>A	c.(508-510)Gac>Aac	p.D170N	GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	170										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTCACCACCGACTCCATGAT	0.652000													5	8					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119916956	119916956	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr12:119916956C>T	ENST00000327554.2	+	4	864	c.399C>T	c.(397-399)ttC>ttT	p.F133F	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	133										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCGCCCATTCACTCCCATCC	0.468000													17	29					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561823	142561823	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:142561823G>A	ENST00000295992.3	-	4	822	c.516C>T	c.(514-516)gaC>gaT	p.D172D	PCOLCE2_ENST00000485766.1_Silent_p.D172D	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	172	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTAATCCCGGTCTGGCCAGT	0.478000													25	80					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66434667	66434667	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:66434667C>T	ENST00000383703.3	-	15	2494	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.D607N|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	607	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGGTTATGTCGTGGGGCGTT	0.542000													51	228					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42778860	42778860	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:42778860C>T	ENST00000330714.3	+	13	2024	c.1840C>T	c.(1840-1842)Ccc>Tcc	p.P614S		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	614					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCTCATTTTCCCAGTAATGA	0.468000													23	55					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842271	72842271	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:72842271C>T	ENST00000293190.5	-	11	2430	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	GRIN2C_ENST00000347612.4_Missense_Mutation_p.A762T	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	762					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TTCTGCATGGCGATGCCGTAG	0.607000													43	146					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594669	179594669	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:179594669G>A	ENST00000589042.1	-	63	18535	c.18311C>T	c.(18310-18312)cCt>cTt	p.P6104L	TTN_ENST00000342992.6_Missense_Mutation_p.P4860L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P5787L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5787	Ig-like 42.						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)			GAATTGAGGAGGTTCTAAAGA	0.448000													16	20					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29599985	29599985	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:29599985C>T	ENST00000375500.3	+	5	639	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	148					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTGAGGTTTCCTAAACTGGAA	0.507000													54	68					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73646435	73646435	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:73646435C>T	ENST00000264448.6	+	3	746	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S170F|ALMS1_ENST00000377715.1_Missense_Mutation_p.S212F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	212					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTTCTGTTCTCCACTGCTA	0.423000													57	61					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515287	56515287	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr19:56515287G>A	ENST00000390649.3	+	2	268	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	90	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAAATCTTCAGAATCGACCAC	0.448000													13	43					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066410	73066410	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:73066410C>T	ENST00000429829.1	-	0	6178					NR_001564.2																						ACATAAATGTCCAAGATGCAT	0.483000													27	7					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039062	75039062	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:75039062C>T	ENST00000326665.5	-	14	2550	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	778	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGCGCTTCATCTTCCTCCATT	0.498000													30	143					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389124	48389124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr10:48389124G>A	ENST00000224600.4	-	1	1867	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	585	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGCCTTCGGGTGTGTCCAG	0.662000													25	48					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25259080	25259080	+	Silent	SNP	C	C	T	rs139728214	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:25259080C>T	ENST00000216962.4	+	8	1091	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	327					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GAACCTGTTTCGAGACGTTCC	0.602000													28	86					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934464	94934464	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:94934464G>A	ENST00000396200.3	+	3	528	c.252G>A	c.(250-252)aaG>aaA	p.K84K	PDP1_ENST00000520728.1_Silent_p.K59K|PDP1_ENST00000517764.1_Silent_p.K59K|PDP1_ENST00000297598.4_Silent_p.K59K	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	59					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGGCCAAAGGAGAACTGGT	0.463000													44	81					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53271020	53271020	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chrX:53271020G>A	ENST00000396435.3	-	10	3161	c.2961C>T	c.(2959-2961)ccC>ccT	p.P987P	IQSEC2_ENST00000375365.2_Silent_p.P782P|IQSEC2_ENST00000375368.5_Silent_p.P977P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	977	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTAGCCTCTGGGGGCGGTTTG	0.572000													25	0					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986059	11986059	+	RNA	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:11986059C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GATAGGCATTCTCTCCATTGA	0.507000													32	17					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747291	158747291	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:158747291G>A	ENST00000339258.1	-	1	134	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGACTGAGAAGATGAGCATGT	0.488000													43	215					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898447	75898447	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr13:75898447G>A	ENST00000377636.3	-	11	2470	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	TBC1D4_ENST00000431480.2_Silent_p.F708F|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	708	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGGGGCAGTGAAGGAAGGGG	0.458000													43	55					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073321	98073321	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:98073321C>T	ENST00000354924.2	+	1	624	c.624C>T	c.(622-624)atC>atT	p.I208I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAATTCAAATCTTTACCATTG	0.343000													34	55					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998535	144998535	+	Silent	SNP	G	G	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:144998535G>A	ENST00000322810.4	-	31	6142	c.5973C>T	c.(5971-5973)atC>atT	p.I1991I	PLEC_ENST00000357649.2_Silent_p.I1858I|PLEC_ENST00000527096.1_Silent_p.I1877I|PLEC_ENST00000354589.3_Silent_p.I1854I|PLEC_ENST00000345136.3_Silent_p.I1854I|PLEC_ENST00000398774.2_Silent_p.I1822I|PLEC_ENST00000356346.3_Silent_p.I1840I|PLEC_ENST00000436759.2_Silent_p.I1881I|PLEC_ENST00000354958.2_Silent_p.I1832I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1991	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTGAGCGCGATCTCCGCCT	0.736000													23	30					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232982	56232982	+	Silent	SNP	C	C	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:56232982C>T	ENST00000268912.5	+	1	489	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGTCCACTCCATTGTCCAAC	0.532000													48	61					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67390736	67390756	+	In_Frame_Del	DEL	GGCGGCAGCAGCGAAGGTGGC	GGCGGCAGCAGCGAAGGTGGC	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:67390736_67390756delGGCGGCAGCAGCGAAGGTGGC	ENST00000401041.1	+	1	95_115	c.25_45delGGCGGCAGCAGCGAAGGTGGC	c.(25-45)del	p.GGSSEGG9del	MIER1_ENST00000371016.1_5'UTR|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000357692.2_5'UTR|MIER1_ENST00000371018.3_5'UTR|MIER1_ENST00000371014.1_In_Frame_Del_p.GGSSEGG9del|MIER1_ENST00000371012.2_5'UTR	NM_001077700.2	NP_001071168.2	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTCAggcggtggcggcagcagcgaaggtggcggcggcagca	0.674													2	4	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143174793	143174793	+	RNA	DEL	G	G	-	rs111919200		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:143174793delG	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							ctctgaagcagtgacgcaagc	0.537													2	4	---	---	---	---					
LOC101927648	101927648	broad.mit.edu	37	1	143411083	143411084	+	RNA	INS	-	-	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:143411083_143411084insA	ENST00000423249.1	-	0	59																											ctgcaggctgtaaaaaaaaaag	0.381													5	3	---	---	---	---					
LOC101927648	101927648	broad.mit.edu	37	1	143412865	143412865	+	RNA	DEL	A	A	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:143412865delA	ENST00000423249.1	-	0	59																											aggctgacagaaggatggaca	0.413													4	2	---	---	---	---					
LOC101927648	101927648	broad.mit.edu	37	1	143425098	143425099	+	RNA	INS	-	-	A			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:143425098_143425099insA	ENST00000423249.1	-	0	59																											ccagtaatgctaaaaaccaacc	0.406													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116193	145116193	+	RNA	DEL	G	G	-	rs66989703		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:145116193delG	ENST00000453618.1	+	0	1279							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCACTGGCTGGGGCATTCTC	0.428													5	3	---	---	---	---					
RP11-544D21.1	0	broad.mit.edu	37	1	239451673	239451674	+	RNA	DEL	AA	AA	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr1:239451673_239451674delAA	ENST00000442410.1	-	0	32																											ctaatgctatAAAAAAAAAAAa	0.356													2	4	---	---	---	---					
AC144450.1	0	broad.mit.edu	37	2	1601390	1601391	+	RNA	INS	-	-	AC			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr2:1601390_1601391insAC	ENST00000438247.1	-	0	515																											acacagatcagacacacacgca	0.505													4	9	---	---	---	---					
LINC00620	285375	broad.mit.edu	37	3	13693078	13693079	+	RNA	DEL	GT	GT	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:13693078_13693079delGT	ENST00000419618.1	+	0	113				LINC00620_ENST00000438915.1_RNA	NR_027103.1																						ACTGTTCTGGgtgtgtgtgtat	0.550													2	4	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56787532	56787533	+	Splice_Site	INS	-	-	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:56787532_56787533insT	ENST00000413728.2	-	4	998_999	c.456_splice	c.e4+1	p.S152_splice	ARHGEF3_ENST00000497267.1_Splice_Site_p.S117_splice|ARHGEF3_ENST00000496106.1_Splice_Site_p.S152_splice|ARHGEF3_ENST00000495373.1_Splice_Site_p.S146_splice|ARHGEF3_ENST00000296315.3_Splice_Site_p.S146_splice|ARHGEF3_ENST00000338458.4_Splice_Site_p.S178_splice|ARHGEF3_ENST00000498517.1_5'UTR	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	146	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTAAATTTACCTTTTTTGCTAA	0.366													17	69	---	---	---	---					
PRICKLE2-AS1	100652759	broad.mit.edu	37	3	64065825	64065825	+	RNA	DEL	C	C	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:64065825delC	ENST00000482609.1	+	0	198				RP11-129B22.2_ENST00000485805.1_lincRNA	NR_045697.1																						AGAGCTGGCTCCCAGGTGTAG	0.507													2	4	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													3	3	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190818258	190818260	+	RNA	DEL	ATA	ATA	-	rs112949874		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr4:190818258_190818260delATA	ENST00000511785.1	-	0	231																											gcaggtgcacataatgttttgga	0.404													3	4	---	---	---	---					
AC004543.2	0	broad.mit.edu	37	7	19854750	19854750	+	RNA	DEL	A	A	-	rs11330936		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:19854750delA	ENST00000418764.2	-	0	329																											GATGAATGCCAAAAAAATTTT	0.308													3	3	---	---	---	---					
APTR	100505854	broad.mit.edu	37	7	77300856	77300857	+	RNA	DEL	TT	TT	-	rs5885029		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr7:77300856_77300857delTT	ENST00000440088.1	-	0	370																											ACACTAATGCtttttttttttt	0.446													3	3	---	---	---	---					
AC022182.1	0	broad.mit.edu	37	8	61863929	61863929	+	RNA	DEL	C	C	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr8:61863929delC	ENST00000527672.1	+	0	323																											AATGATAGTTCCACCTCTTTC	0.468													2	4	---	---	---	---					
DOLK	22845	broad.mit.edu	37	9	131709390	131709404	+	In_Frame_Del	DEL	GTAGCAGCCGGTCCC	GTAGCAGCCGGTCCC	-	rs148171062	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr9:131709390_131709404delGTAGCAGCCGGTCCC	ENST00000372586.3	-	1	494_508	c.179_193delGGGACCGGCTGCTAC	c.(178-195)tag>t	p.WDRLLQ60del	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	60					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTG	0.591													11	47	---	---	---	---					
RP11-587D21.4	0	broad.mit.edu	37	11	27817193	27817194	+	RNA	INS	-	-	AA	rs72512382	by1000genomes	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr11:27817193_27817194insAA	ENST00000530663.1	-	0	147																											cctgtaagtggagagaataata	0.421													4	3	---	---	---	---					
RP11-58E21.5	0	broad.mit.edu	37	14	50519464	50519465	+	RNA	DEL	AC	AC	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr14:50519464_50519465delAC	ENST00000556019.2	-	0	186																											gcacacacagacacacacacac	0.495													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5666686	5666686	+	RNA	DEL	C	C	-	rs35916077		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:5666686delC	ENST00000569895.1	+	0	403																											CCTTTATCTTCCGCCCCCTGA	0.592													7	2	---	---	---	---					
RP11-505K9.4	0	broad.mit.edu	37	16	83952984	83952986	+	RNA	DEL	CAC	CAC	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:83952984_83952986delCAC	ENST00000561562.1	+	0	300																											CACAGGAGAACACAGTgcacagg	0.507													5	1	---	---	---	---					
RP11-104N10.1	0	broad.mit.edu	37	16	89566284	89566284	+	RNA	DEL	T	T	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr16:89566284delT	ENST00000565623.1	-	0	254																											cccccagctattttttttttt	0.532													2	4	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25753103	25753103	+	RNA	DEL	C	C	-			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr17:25753103delC	ENST00000586223.1	+	0	1495					NR_033892.1																						CCCTGCAGTGCCCTGCTTCCC	0.632													2	4	---	---	---	---					
FAM182A	284800	broad.mit.edu	37	20	26057657	26057657	+	RNA	DEL	A	A	-	rs144848982		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:26057657delA	ENST00000376398.2	+	0	819					NR_026713.1															breast(1)|endometrium(2)|kidney(1)	4						gaaaatacagaaaaaaaatct	0.299													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29587354	29587355	+	RNA	INS	-	-	T			TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:29587354_29587355insT	ENST00000432067.1	-	0	152																											gtaccacagtgtttttctttct	0.391													2	4	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57173223	57173226	+	RNA	DEL	TTCA	TTCA	-	rs75429445	byFrequency	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr20:57173223_57173226delTTCA	ENST00000427140.1	+	0	943				RP5-907D15.3_ENST00000525424.1_lincRNA	NR_034147.1																						cattctttccttcattcattcatt	0.402													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11037537	11037537	+	RNA	DEL	T	T	-	rs61364433	by1000genomes	TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:11037537delT	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACAAAAAATACTTACTGGA	0.274													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11061894	11061894	+	RNA	DEL	G	G	-	rs56157850		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:11061894delG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAAGGAAAAGTTATGTATAT	0.318													6	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11066282	11066286	+	RNA	DEL	TTACT	TTACT	-	rs66697625		TCGA-GN-A4U3-06A-11D-A32N-08	TCGA-GN-A4U3-10F-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55739de1-23f4-4adb-b810-25b24fa7a84c	15b25f50-b0e7-4bd8-9179-879b71046b1b	g.chr21:11066282_11066286delTTACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacaaaGAAATTACTTTATtcccat	0.371													4	3	---	---	---	---					
